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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GJB1

Variant:p.H16Q

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GJB1

NM_000166.6:p.H16Q

hg38:chrX:71223755 T>A

Associated Papers

Mutational analysis of GJB1, MPZ, PMP22, EGR2, and LITAF/SIMPLE in Serbian Charcot-Marie-Tooth patients.

Keckarevic-Markovic M et al.

Journal of the Peripheral Nervous System : Jpns, 2009

19691535 (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."