학술논문

A cryptic pathogenic NDUFV1 variant identified by RNA-seq in a patient with normal complex I activity in muscle and transient magnetic resonance imaging changes
Document Type
Article
Source
In: American Journal of Medical Genetics, Part A. (American Journal of Medical Genetics, Part A, June 2023, 191(6):1599-1606)
Subject
Language
English
ISSN
15524833
15524825