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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GFPT1

Variant:p.Y160C

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GFPT1

NM_001244710.2:p.Y160C

hg38:chr2:69358393 T>C

Associated Papers

Clinical and genetic characterisation of a large Indian congenital myasthenic syndrome cohort.

Polavarapu K et al.

Brain : a Journal of Neurology, 2024

37721175 (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."