학술논문
Pathogenic deep intronic MTM1 variant activates a pseudo-exon encoding a nonsense codon resulting in severe X-linked myotubular myopathy
Document Type
Article
Author
Source
In: European Journal of Human Genetics . (European Journal of Human Genetics, January 2021, 29(1):61-66)
Subject
Language
English
ISSN
14765438
10184813
10184813