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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GFPT1

Variant:p.A6T

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GFPT1

NM_001244710.2:p.A6T

hg38:chr2:69374105 C>T

Associated Papers

A Cohort of Iranian Patients With Congenital Myasthenic Syndrome due to Glycosylation Defects.

Ramezani M et al.

Muscle & Nerve, 2026

41312578 (PubMed )

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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."