Varaico: Literature-Extracted Genetic Variants

Gene:IGHMBP2
Variant:p.R595W
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IGHMBP2

NM_002180.3:p.R595W

Associated Papers

Mutation spectrum of Charcot-Marie-Tooth disease among the Han Chinese in Taiwan.

Hsu YH et al.

Annals of Clinical and Translational Neurology, 2019

Clinical diversity caused by novel IGHMBP2 variants.

Yuan JH et al.

Journal of Human Genetics, 2017

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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."