Varaico: Literature-Extracted Genetic Variants

Gene:P3H3
Variant:p.R140G
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P3H3

NM_014262.5:p.R140G

Associated Papers

Mutations in HspB1 and hereditary neuropathies.

Muranova LK et al.

Cell Stress & Chaperones, 2020

Clinical and genetic features of Charcot-Marie-Tooth disease 2F and hereditary motor neuropathy 2B in Japan.

Tanabe H et al.

Journal of the Peripheral Nervous System : Jpns, 2018

Small Heat Shock Proteins and Distal Hereditary Neuropathies.

Nefedova VV et al.

Biochemistry. Biokhimiia, 2015

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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."