Varaico: Literature-Extracted Genetic Variants

Gene:ESPN
Variant:p.Q814*
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ESPN

NM_031475.3:p.Q814*

Associated Papers

Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents.

Yan D et al.

Human Genetics, 2016

Targeted next-generation sequencing of deafness genes in hearing-impaired individuals uncovers informative mutations.

Vona B et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2014

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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."