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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GJB2

Variant:p.K168_C169insFs

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GJB2

NM_004004.6:p.K168_C169insFs

hg38:chr13:20189078 C>CGGTT

Associated Papers

GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: a HuGE review.

Kenneson A et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 0

12172392 (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."