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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GJB2

Variant:p.K105_G109del0

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GJB2

NM_004004.6:p.K105_G109del0

hg38:chr13:20189254 CCCCCTTGATGAACTT>C

Associated Papers

GJB2 mutations in patients with non-syndromic hearing loss from Northeastern Hungary.

Tóth T et al.

Human Mutation, 2004

15146474 (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."