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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GFPT1

Variant:p.L207delFs

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GFPT1

NM_001244710.2:p.L207delFs

hg38:chr2:69354552 AC>A

Associated Papers

Congenital myasthenic syndrome caused by a frameshift insertion mutation in GFPT1.

Szelinger S et al.

Neurology. Genetics, 2020

32754643 (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."