P474: Applying the 2022 guidelines for non-coding variant classification in a large rare disease cohort

P474: Applying the 2022 guidelines for non-coding variant classification in a large rare disease cohort

Bibliographic Details
Main Authors: Emily Groopman, Moriel Singer-Berk, Nicola Whiffin, Jamie Ellingford, Samantha Baxter, Heidi Rehm, Anne O’Donnell-Luria
Format: Article
Language:English
Published: Elsevier 2023-01-01
Series:Genetics in Medicine Open
Online Access:http://www.sciencedirect.com/science/article/pii/S2949774423005216

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