ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene ‐level specification of the ACMG/AMP guidelines for sequence variant interpretation

Human Mutation,Volume 39, Issue 11, Page 1614-1622, November 2018.

Source: Human Mutation - October 11, 2018 Category: Genetics & Stem Cells Authors: Edgar A. Rivera ‐Muñoz, Laura V. Milko, Steven M. Harrison, Danielle R. Azzariti, C. Lisa Kurtz, Kristy Lee, Jessica L. Mester, Meredith A. Weaver, Erin Currey, William Craigen, Charis Eng, Birgit Funke, Madhuri Hegde, Ray E. Hershberger, Source Type: research