Varaico: Literature-Extracted Genetic Variants

Gene:DHRS4L2
Variant:p.L68_H69insFs
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DHRS4L2

NM_001193637.1:p.L68_H69insFs

Associated Papers

A mutation of COX6A1 causes a recessive axonal or mixed form of Charcot-Marie-Tooth disease.

Tamiya G 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."