Varaico: Literature-Extracted Genetic Variants

Gene:IGHMBP2
Variant:p.G98fs
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IGHMBP2

NM_002180.3:p.G98fs

Associated Papers

Genetic heterogeneity of motor neuropathies.

Bansagi B et al.

Neurology, 2017

Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2.

Cottenie E et al.

American Journal of Human Genetics, 2014

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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."