Varaico: Literature-Extracted Genetic Variants

Gene:PMP22
Variant:p.H125Y
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PMP22

NM_000304.4:p.H125Y

Associated Papers

Underestimated associated features in CMT neuropathies: clinical indicators for the causative gene?

Werheid F et al.

Brain and Behavior, 2016

27088055 (PubMed )
Supplement: BRB3-6-e00451-s001.pdf

The homozygous ganglioside-induced differentiation-associated protein 1 mutation c.373C > T causes a very early-onset neuropathy: case report and literature review.

Fusco C et al.

Journal of Child Neurology, 2011

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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."