학술논문

Biallelic ASCC1 variants including a novel intronic variant result in expanded phenotypic spectrum of spinal muscular atrophy with congenital bone fractures 2 (SMABF2)
Document Type
Article
Source
In: American Journal of Medical Genetics, Part A. (American Journal of Medical Genetics, Part A, July 2021, 185(7):2190-2197)
Subject
Language
English
ISSN
15524833
15524825