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

oleh: Reynold Ly, Kayla Treat, Brett Graham, Erin Conboy, Anna Boccaccio, Francesco Vetrini

Format: Article
Diterbitkan: Elsevier 2023-01-01

Deskripsi

No description available for this item.