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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GJE1

Variant:p.S78delFs

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GJE1

NM_001358410.2:p.S78delFs

hg38:chr6:142134042 TC>T

Associated Papers

Three novel connexin26 gene mutations in autosomal recessive non-syndromic deafness.

Fuse Y et al.

Neuroreport, 1999

10501520 (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."