Varaico: Literature-Extracted Genetic Variants

Gene:PLEKHG5
Variant:p.D928N
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PLEKHG5

NM_020631.6:p.D928N

Associated Papers

Mutations in the PLEKHG5 gene is relevant with autosomal recessive intermediate Charcot-Marie-Tooth disease.

Kim HJ et al.

Orphanet Journal of Rare Diseases, 2013

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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."