Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.G111E
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PSEN1

NM_000021.4:p.G111E

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
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