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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GJB2

Variant:p.I203V

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GJB2

NM_004004.6:p.I203V

hg38:chr13:20188975 T>C

Associated Papers

Novel connexin 30 and connexin 26 mutational spectrum in patients with progressive sensorineural hearing loss.

Battelino S et al.

The Journal of Laryngology and Otology, 2012

22704424 (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."