Varaico: Literature-Extracted Genetic Variants

Gene:OTOG
Variant:p.R2187*
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OTOG

NM_001277269.2:p.R2187*

Associated Papers

Compound Phenotype Due to Recessive Variants in LARP7 and OTOG Genes Disclosed by an Integrated Approach of SNP-Array and Whole Exome Sequencing.

Palumbo P et al.

Genes, 2020

A novel early truncation mutation in OTOG causes prelingual mild hearing loss without vestibular dysfunction.

Yu S et al.

European Journal of Medical Genetics, 2019

Clinical characteristics with long-term follow-up of four Okinawan families with moderate hearing loss caused by an OTOG variant.

Ganaha A et al.

Human Genome Variation, 2019

Mutations of the gene encoding otogelin are a cause of autosomal-recessive nonsyndromic moderate hearing impairment.

Schraders M et al.

American Journal of Human Genetics, 2012

Burden of Rare Variants in the OTOG Gene in Familial Meniere's Disease.

Roman-Naranjo P et al.

Ear and Hearing, 0

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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."