Varaico: Literature-Extracted Genetic Variants

Gene:GPT2
Variant:p.S188insFs
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GPT2

NM_133443.4:p.S188insFs

Associated Papers

Demyelinating motor neuropathy associated with a homozygous GPT2 pathogenic variant.

Ruaud L et al.

Muscle & Nerve, 2021

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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."