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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GJB7

Variant:p.R32L

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GJB7

NM_198568.3:p.R32L

hg38:chr6:87284818 C>A

Associated Papers

Understanding of the molecular evolution of deafness-associated pathogenic mutations of connexin 26.

Han XH et al.

Genetica, 2014

25447126 (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."