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
Diagnostic yield after next-generation sequencing in pediatric cardiovascular disease.
Slavotinek AM et al.
Hgg Advances, 2024
38521975 (PubMed )
Supplement: mmc2.xlsx › Supplementary_table_2
Molecular diagnostic yield of genome sequencing versus targeted gene panel testing in racially and ethnically diverse pediatric patients.
Abul-Husn NS et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
36993157 (PubMed )
Supplement: media-2.xlsx › eTable_5
Abnormal decrement on high-frequency repetitive nerve stimulation in congenital myasthenic syndrome with GFPT1 mutations and review of literature.
An R et al.
Frontiers in Neurology, 2022
36188410 (PubMed )
Supplement: Data_Sheet_1.PDF
Congenital myasthenic syndrome caused by a frameshift insertion mutation in GFPT1.
Szelinger S et al.
Neurology. Genetics, 2020
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