Varaico: Literature-Extracted Genetic Variants

Gene:NUP214
Variant:p.R12delFs
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NUP214

NM_005085.4:p.R12delFs

Associated Papers

Functional consequences of novel connexin 26 mutations associated with hereditary hearing loss.

Mani RS et al.

European Journal of Human Genetics : Ejhg, 2009

Clinical studies of families with hearing loss attributable to mutations in the connexin 26 gene (GJB2/DFNB1)

Cohn ES et al.

Pediatrics, 1999

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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."