Varaico: Literature-Extracted Genetic Variants

Gene:RIPOR2
Variant:p.R34Splc
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RIPOR2

NM_014722.5:p.R34Splc

Associated Papers

RIPOR2: A new gene of non-syndromic cochleovestibular dysfunction, discrepancy between human pathology and animal models.

Morel G et al.

Clinical Genetics, 2023

Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohort.

Bademci G et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2016

FAM65B is a membrane-associated protein of hair cell stereocilia required for hearing.

Diaz-Horta O et al.

Proceedings of the National Academy of Sciences of the United States of America, 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."