ClinGen’s RASopathy Expert Panel consensus methods for variant interpretation
ClinGen’s RASopathy Expert Panel consensus methods for variant interpretation
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Publisher
New York: Nature Publishing Group US
Journal title
Language
English
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Publisher
New York: Nature Publishing Group US
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Scope and Contents
Contents
Purpose
Standardized and accurate variant assessment is essential for effective medical care. To that end, Clinical Genome (ClinGen) Resource clinical domain working groups (CDWGs) are systematically reviewing disease-associated genes for sufficient evidence to support disease causality and creating disease-specific specifications of American Co...
Alternative Titles
Full title
ClinGen’s RASopathy Expert Panel consensus methods for variant interpretation
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Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6119537
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6119537
Other Identifiers
ISSN
1098-3600
E-ISSN
1530-0366
DOI
10.1038/gim.2018.3
