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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PMP22

Variant:p.V10V

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PMP22

NM_000304.4:p.V10V

hg38:chr17:15260698 G>A

Associated Papers

Mutational analysis of PMP22, MPZ, GJB1, EGR2 and NEFL in Korean Charcot-Marie-Tooth neuropathy patients.

Choi BO et al.

Human Mutation, 2004

15241803 (PubMed )

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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."