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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GFPT1

Variant:p.K154T

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GFPT1

NM_001244710.2:p.K154T

hg38:chr2:69358411 T>G

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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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."