학술논문
Induced pluripotent stem cell (iPSC) modeling validates reduced GBE1 enzyme activity due to a novel variant, p.Ile694Asn, found in a patient with suspected glycogen storage disease IV
Document Type
Article
Author
Source
In: Molecular Genetics and Metabolism Reports . (Molecular Genetics and Metabolism Reports, June 2024, 39)
Subject
Language
English
ISSN
22144269