P237: A de novo gain-of-function ANO5 variant in a patient with anoctaminopathy5-related muscular dystrophy challenges the skeletal/muscular phenotype dichotomy into question

Bibliographic Details
Main Authors:	Reynold Ly, Kayla Treat, Brett Graham, Erin Conboy, Anna Boccaccio, Francesco Vetrini
Format:	Article
Language:	English
Published:	Elsevier 2023-01-01
Series:	Genetics in Medicine Open
Online Access:	http://www.sciencedirect.com/science/article/pii/S2949774423002650

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