Associated Papers
A cohort of GFPT1 related congenital myasthenic syndrome in China: high frequency of c.331 c > t variant.
Zhang J et al.
Orphanet Journal of Rare Diseases, 2025
40442802 (PubMed )
Supplement: 13023_2025_3823_MOESM1_ESM.docx
Juvenile-onset PSAT1-related neuropathy: A milder phenotype of serine deficiency disorder.
Shen Y et al.
Frontiers in Genetics, 2022
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