Varaico: Literature-Extracted Genetic Variants

Gene:BNC2
Variant:p.E370D
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BNC2

NM_017637.6:p.E370D

Associated Papers

EPS8, encoding an actin-binding protein of cochlear hair cell stereocilia, is a new causal gene for autosomal recessive profound deafness.

Behlouli A et al.

Orphanet Journal of Rare Diseases, 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."