학술논문

Two Sibling Cases of Spastic Paraplegia-45 with a Novel Pathogenic Variant in NT5C2 Gene: Concomitant RYR1 Gene in One Sibling
Document Type
Article
Source
In: Molecular Syndromology. (Molecular Syndromology, 1 August 2024, 15(4):297-302)
Subject
Language
English
ISSN
16618777
16618769