P696: Case presentation: Co-segregation of a rare GLA variant of uncertain significance within 2 multiplex families facilitates variant reclassification to pathogenic

Bibliographic Details
Main Authors: Mary Colasanto, Yinghong Pan, Ruby Liu, Christin Collins, Madhuri Hegde
Format: Article
Language:English
Published: Elsevier 2024-01-01
Series:Genetics in Medicine Open
Online Access:http://www.sciencedirect.com/science/article/pii/S2949774424007465