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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GJB2

Variant:p.Q57_P58delins

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GJB2

NM_004004.6:p.Q57_P58delins

hg38:chr13:20189410 GC>AA

Associated Papers

Three novel GJB2 (connexin 26) variants associated with autosomal dominant syndromic and nonsyndromic hearing loss.

DeMille D et al.

American Journal of Medical Genetics. Part A, 2018

29575629 (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."