Difference between revisions of "DDX41"

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==Primary Author(s)*==
 
==Primary Author(s)*==
  
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Put your text here
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Ying Zou, MD, Ph.D. FACMG, The Johns Hopkins University
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EXAMPLE: Jane Smith, PhD, Institute of Genomics
 
  
 
__TOC__
 
__TOC__
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==Synonyms==
 
==Synonyms==
  
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Put your text here
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* DEAD-Box Helicase 41
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EXAMPLE: Tumor protein p53, 'LFS1, p53, BCC7, TRP53
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* ABS
 +
* DEAD (Asp-Glu-Ala-Asp) Box Polypeptide 41
 +
* Probable ATP-Dependent RNA Helicase DDX41
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* DEAD Box Protein Abstrakt Homolog
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* DEAD Box Protein 41
 +
 
 +
* DEAD-Box Protein Abstrakt
 +
* Putative RNA Helicase
 +
* EC 3.6.4.13
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* EC 3.6.1
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* MGC8828
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* MPLPF
  
 
==Genomic Location==
 
==Genomic Location==
  
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'''Cytoband:''' Put your text here. EXAMPLE: 17p13.1
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'''Cytoband:''' 5q35.3
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'''Genomic Coordinates:'''
 
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Put your text here
 
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EXAMPLE: chr17:7,571,720-7,590,868 [hg19]
 
−
 
 
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EXAMPLE: chr17:7,668,402-7,687,538 [hg38]
 
  
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'''Genomic Coordinates:''' chr5:177,511,576-177,516,960 [hg38]
 
==Cancer Category/Type==
 
==Cancer Category/Type==
  
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Put your text here
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* Myeloproliferative Neoplasms
 +
* Lymphoproliferative Neoplasms
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* Familial and Leukemia, Acute Myeloid
  
 
==Gene Overview==
 
==Gene Overview==
  
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Put your text here.
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DDX41 (DEAD-Box Helicase 41) gene encodes an RNA helicase, which includes nucleic acid binding and helicase activity. Evidence suggests that it has a function in hematopoiesis and acts as a tumor suppressor gene <ref>Irion, U., Leptin, M. Developmental and cell biological functions of the Drosophila DEAD-box protein Abstrakt. Curr. Biol. 9: 1373-1381, 1999.</ref><ref>Zhang Z, Yuan B, Bao M, Lu N, Kim T, Liu YJ. The helicase DDX41 senses intracellular DNA mediated by the adaptor STING in dendritic cells. Nat Immunol. 2011 Sep 4;12(10):959-65. </ref>.
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 +
Heterozygous mutation in the DDX41 gene has susceptibility to multiple types of familial myeloproliferative/lymphoproliferative neoplasms (MPLPF), which is an autosomal dominant cancer predisposition syndrome characterized by adult-onset of hematologic malignancies mainly affecting the myeloid line <ref>Maciejewski JP, Padgett RA, Brown AL, Müller-Tidow C. DDX41-related myeloid neoplasia. Semin Hematol. 2017 Apr;54(2):94-97.</ref><ref name=":0">Polprasert, C., Schulze, I., Sekeres, M. A., Makishima, H., Przychodzen, B., Hosono, N., Singh, J., Padgett, R. A., Gu, X., Phillips, J. G., Clemente, M., Parker, Y., and 24 others. Inherited and somatic defects in DDX41 in myeloid neoplasms. Cancer Cell 27: 658-670, 2015. </ref><ref>Sanders MA. Lifting the veil on germline DDX41 mutations. Blood. 2019 Oct 24;134(17):1368-1370. </ref>. Most MPLPF patients present with myelodysplastic syndrome (MDS), acute myeloid leukemia (AML), rare lymphoid malignancies (lymphomas), and immune dysregulation disorders including asthma, eczema, or juvenile arthritis. The disorder shows incomplete penetrance and a favorable response to treatment with lenalidomide <ref name=":0" /><ref>Lewinsohn, M., Brown, A. L., Weinel, L. M., Phung, C., Rafidi, G., Lee, M. K., Schreiber, A. W., Feng, J., Babic, M., Chong, C.-E., Lee, Y., Yong, A., and 18 others. Novel germ line DDX41 mutations define families with a lower age of MDS/AML onset and lymphoid malignancies. Blood 127: 1017-1023, 2016. </ref>
  
 
==Common Alteration Types==
 
==Common Alteration Types==
 +
 +
* DDX41 mutations and deletions
 +
* Loss-of-Function Mutations
 +
* Missense mutations (such as R164W, I396T, R525H)
 +
* Truncating/frameshift mutations (such as Asp140fs)
 +
* Splice-site mutations (such as del/ins mutation, c.435-2_435-1delAGinsCA, NM_016222.2 in the splice acceptor site of exon 6) 
 +
* Copy Number Loss: some cases of 5q- syndrome
  
 
Put your text here and fill in the table with an X where applicable
 
Put your text here and fill in the table with an X where applicable
  
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Copy Number Loss: 
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{| class="wikitable sortable"
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Copy Number Gain: 
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|-
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LOH:
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!Copy Number Loss!!Copy Number Gain!!LOH!!Loss-of-Function Mutation!!Gain-of-Function Mutation!!Translocation/Fusion
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Loss-of-Function Mutation:
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|-
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Gain-of-Function Mutation:
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|EXAMPLE: X||EXAMPLE: X||EXAMPLE: X||EXAMPLE: X||EXAMPLE: X||EXAMPLE: X
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Translocation/Fusion:
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|}
  
 
==Internal Pages==
 
==Internal Pages==
  
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Put your links here (use "Link" icon at top of page)
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[[HAEM4:Myeloid Neoplasms with Germline DDX41 Mutation]]
 
   
 
   
 
==External Links==
 
==External Links==
  
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Put your text here - Include as applicable links to:
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'''DDX41 by Atlas of Genetics and Cytogenetics in Oncology and Haematology''' - http://atlasgeneticsoncology.org//Genes/GC_DDX41.html
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1) Atlas of Genetics and Cytogenetics in Oncology and Haematology,
 
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2) COSMIC,
 
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3) CIViC,
 
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4) St. Jude ProteinPaint,
 
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5) Precision Medicine Knowledgebase (Weill Cornell),
 
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6) Cancer Index,
 
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7) OncoKB,
 
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8) NCBI Gene
 
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9) My Cancer Genome,
 
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10) UniProt,
 
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11) Pfam,
 
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12) GeneCards,
 
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13) OMIM
 
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14) LOVD(3) - Leiden Open Variation Database
 
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15) TICdb - database of Translocation breakpoints In Cancer
 
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16) GeneReviews, and
 
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17) Any gene-specific databases.
 
  
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EXAMPLES (these may be filled in already)
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'''[https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=TP53 ''DDX41'' by COSMIC]''' - sequence information, expression, catalogue of mutations
  
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'''[http://atlasgeneticsoncology.org/Genes/P53ID88.html ''TP53'' by Atlas of Genetics and Cytogenetics in Oncology and Haematology]''' - detailed gene information
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'''[https://cancer.sanger.ac.uk/cosmic/mutation/overview?id=170744437 ''DDX41'' by CIViC]''' - general knowledge and evidence-based variant specific information
  
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'''[https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=TP53 ''TP53'' by COSMIC]''' - sequence information, expression, catalogue of mutations
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'''[https://pecan.stjude.cloud/proteinpaint/DDX41 ''DDX41'' by St. Jude ProteinPaint]''' mutational landscape and matched expression data.
  
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'''[https://civicdb.org/events/genes/45/summary/variants/1300/summary ''TP53'' by CIViC]''' - general knowledge and evidence-based variant specific information
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'''[https://www.oncokb.org/gene/DDX3X DDX41 by OncoKB]''' - mutational landscape, mutation effect, variant classification
  
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'''[http://p53.iarc.fr/ ''TP53'' by IARC]''' - ''TP53'' database with reference sequences and mutational landscape
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'''[https://www.ncbi.nlm.nih.gov/gene/?term=DDX41 ''DDX41'' by NCBI Gene]''' - brief gene overview
  
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'''[https://pecan.stjude.cloud/proteinpaint/tp53 ''TP53'' by St. Jude ProteinPaint]''' mutational landscape and matched expression data.
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'''[https://www.mycancergenome.org/content/search/?query=DDX41 DDX41 by My Cancer Genome]''' - brief gene overview
  
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'''[https://pmkb.weill.cornell.edu/search?utf8=%E2%9C%93&search=tp53 ''TP53'' by Precision Medicine Knowledgebase (Weill Cornell)]''' - manually vetted interpretations of variants and CNVs
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'''[https://www.uniprot.org/uniprot/Q9UJV9 ''DDX41'' by UniProt]''' - protein and molecular structure and function
  
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'''[http://www.cancerindex.org/geneweb/TP53.htm ''TP53'' by Cancer Index]''' - gene, pathway, publication information matched to cancer type
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'''[https://pfam.xfam.org/search/keyword?query=DDX41 ''DDX41'' by Pfam]''' - gene and protein structure and function information
  
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'''[http://oncokb.org/#/gene/TP53 ''TP53'' by OncoKB]''' - mutational landscape, mutation effect, variant classification
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'''[https://www.genecards.org/cgi-bin/carddisp.pl?gene=DDX41&keywords=DDX41 ''DDX41'' by GeneCards]''' - general gene information and summaries
  
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'''[https://www.ncbi.nlm.nih.gov/gene/2122 ''MECOM'' by NCBI Gene]''' - brief gene overview
+
'''[https://www.omim.org/entry/608170?search=DDX41&highlight=ddx41 ''DDX41'' by OMIM]''' - compendium of human genes and genetic phenotypes
  
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'''[https://www.mycancergenome.org/content/gene/tp53/ ''TP53'' by My Cancer Genome]''' - brief gene overview
+
'''DDX41''' '''[https://www.ncbi.nlm.nih.gov/gene/51428 GeneReviews]''' - information on Li Fraumeni Syndrome
  
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'''[http://www.uniprot.org/uniprot/P04637 ''TP53'' by UniProt]''' - protein and molecular structure and function
+
==References==
−
 
 
−
'''[https://pfam.xfam.org/family/p53 ''TP53'' by Pfam]''' - gene and protein structure and function information
 
−
 
 
−
'''[http://www.genecards.org/cgi-bin/carddisp.pl?gene=tp53 ''TP53'' by GeneCards]''' - general gene information and summaries
 
−
 
 
−
'''[http://www.omim.org/entry/165215 ''MECOM'' by OMIM]''' - compendium of human genes and genetic phenotypes
 
−
 
 
−
'''[https://databases.lovd.nl/shared/genes/MECOM  ''MECOM'' by LOVD(3)]''' - Leiden Open Variation Database
 
−
 
 
−
'''[http://www.unav.es/genetica/TICdb/results.php?hgnc=MECOM ''MECOM'' by TICdb]''' - database of Translocation breakpoints In Cancer
 
−
 
 
−
'''[https://www.ncbi.nlm.nih.gov/books/NBK1311/ GeneReviews]''' - information on Li Fraumeni Syndrome
 
  
−
==References==
 
−
(use "Cite" icon at top of page)
 
 
<references />
 
<references />
−
===EXAMPLE Book===
+
#  
−
#Arber DA, et al., (2017). Acute myeloid leukaemia with recurrent genetic abnormalities, in World Health Organization Classification of Tumours of Haematopoietic and Lymphoid Tissues, Revised 4th edition. Swerdlow SH, Campo E, Harris NL, Jaffe ES, Pileri SA, Stein H, Thiele J, Arber DA, Hasserjian RP, Le Beau MM, Orazi A, and Siebert R, Editors. IARC Press: Lyon, France, p129-171.
 
−
 
 
−
=== EXAMPLE Internet Resource ===
 
−
# author name(s).  Date (if possible). page title, website title, web address, and date accessed.
 
−
# Cingam, S. R. and Koshy, N.V. (2017). Cancer, Leukemia, Promyelocytic, Acute (APL, APML). https://www.ncbi.nlm.nih.gov/books/NBK459352/ Accessed August 3, 2018.
 
  
 
== Notes ==
 
== Notes ==

Latest revision as of 14:00, 12 December 2023

Primary Author(s)*

Ying Zou, MD, Ph.D. FACMG, The Johns Hopkins University

Synonyms

  • DEAD-Box Helicase 41
  • ABS
  • DEAD (Asp-Glu-Ala-Asp) Box Polypeptide 41
  • Probable ATP-Dependent RNA Helicase DDX41
  • DEAD Box Protein Abstrakt Homolog
  • DEAD Box Protein 41
  • DEAD-Box Protein Abstrakt
  • Putative RNA Helicase
  • EC 3.6.4.13
  • EC 3.6.1
  • MGC8828
  • MPLPF

Genomic Location

Cytoband: 5q35.3

Genomic Coordinates: chr5:177,511,576-177,516,960 [hg38]

Cancer Category/Type

  • Myeloproliferative Neoplasms
  • Lymphoproliferative Neoplasms
  • Familial and Leukemia, Acute Myeloid

Gene Overview

DDX41 (DEAD-Box Helicase 41) gene encodes an RNA helicase, which includes nucleic acid binding and helicase activity. Evidence suggests that it has a function in hematopoiesis and acts as a tumor suppressor gene [1][2].

Heterozygous mutation in the DDX41 gene has susceptibility to multiple types of familial myeloproliferative/lymphoproliferative neoplasms (MPLPF), which is an autosomal dominant cancer predisposition syndrome characterized by adult-onset of hematologic malignancies mainly affecting the myeloid line [3][4][5]. Most MPLPF patients present with myelodysplastic syndrome (MDS), acute myeloid leukemia (AML), rare lymphoid malignancies (lymphomas), and immune dysregulation disorders including asthma, eczema, or juvenile arthritis. The disorder shows incomplete penetrance and a favorable response to treatment with lenalidomide [4][6]

Common Alteration Types

  • DDX41 mutations and deletions
  • Loss-of-Function Mutations
  • Missense mutations (such as R164W, I396T, R525H)
  • Truncating/frameshift mutations (such as Asp140fs)
  • Splice-site mutations (such as del/ins mutation, c.435-2_435-1delAGinsCA, NM_016222.2 in the splice acceptor site of exon 6)
  • Copy Number Loss: some cases of 5q- syndrome

Put your text here and fill in the table with an X where applicable

Copy Number Loss Copy Number Gain LOH Loss-of-Function Mutation Gain-of-Function Mutation Translocation/Fusion
EXAMPLE: X EXAMPLE: X EXAMPLE: X EXAMPLE: X EXAMPLE: X EXAMPLE: X

Internal Pages

HAEM4:Myeloid Neoplasms with Germline DDX41 Mutation

External Links

DDX41 by Atlas of Genetics and Cytogenetics in Oncology and Haematology - http://atlasgeneticsoncology.org//Genes/GC_DDX41.html

DDX41 by COSMIC - sequence information, expression, catalogue of mutations

DDX41 by CIViC - general knowledge and evidence-based variant specific information

DDX41 by St. Jude ProteinPaint mutational landscape and matched expression data.

DDX41 by OncoKB - mutational landscape, mutation effect, variant classification

DDX41 by NCBI Gene - brief gene overview

DDX41 by My Cancer Genome - brief gene overview

DDX41 by UniProt - protein and molecular structure and function

DDX41 by Pfam - gene and protein structure and function information

DDX41 by GeneCards - general gene information and summaries

DDX41 by OMIM - compendium of human genes and genetic phenotypes

DDX41 GeneReviews - information on Li Fraumeni Syndrome

References

  1. ↑ Irion, U., Leptin, M. Developmental and cell biological functions of the Drosophila DEAD-box protein Abstrakt. Curr. Biol. 9: 1373-1381, 1999.
  2. ↑ Zhang Z, Yuan B, Bao M, Lu N, Kim T, Liu YJ. The helicase DDX41 senses intracellular DNA mediated by the adaptor STING in dendritic cells. Nat Immunol. 2011 Sep 4;12(10):959-65.
  3. ↑ Maciejewski JP, Padgett RA, Brown AL, Müller-Tidow C. DDX41-related myeloid neoplasia. Semin Hematol. 2017 Apr;54(2):94-97.
  4. ↑ 4.0 4.1 Polprasert, C., Schulze, I., Sekeres, M. A., Makishima, H., Przychodzen, B., Hosono, N., Singh, J., Padgett, R. A., Gu, X., Phillips, J. G., Clemente, M., Parker, Y., and 24 others. Inherited and somatic defects in DDX41 in myeloid neoplasms. Cancer Cell 27: 658-670, 2015.
  5. ↑ Sanders MA. Lifting the veil on germline DDX41 mutations. Blood. 2019 Oct 24;134(17):1368-1370.
  6. ↑ Lewinsohn, M., Brown, A. L., Weinel, L. M., Phung, C., Rafidi, G., Lee, M. K., Schreiber, A. W., Feng, J., Babic, M., Chong, C.-E., Lee, Y., Yong, A., and 18 others. Novel germ line DDX41 mutations define families with a lower age of MDS/AML onset and lymphoid malignancies. Blood 127: 1017-1023, 2016.

Notes

*Primary authors will typically be those that initially create and complete the content of a page. If a subsequent user modifies the content and feels the effort put forth is of high enough significance to warrant listing in the authorship section, please contact the CCGA coordinators (contact information provided on the homepage). Additional global feedback or concerns are also welcome.

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