Varaico: Literature-Extracted Genetic Variants

Gene:ADH1C
Variant:p.P137L
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ADH1C

NM_000669.5:p.P137L

Associated Papers

WES homozygosity mapping in a recessive form of Charcot-Marie-Tooth neuropathy reveals intronic GDAP1 variant leading to a premature stop codon.

Masingue M et al.

Neurogenetics, 2018

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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."