Varaico: Literature-Extracted Genetic Variants

Gene:P3H3
Variant:p.L59_L64delFs
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P3H3

NM_014262.5:p.L59_L64delFs

Associated Papers

Wan Du et al. - Prevalence of GJB2 mutations in the Silk Road region of China and a report of three novel variants. Acta Oto-Laryngol 2014; 134: 373-381.

Hellström S

Acta Oto-laryngologica, 2018

Prevalence of Mutations in Deafness-Causing Genes in Cochlear Implanted Patients with Profound Nonsyndromic Sensorineural Hearing Loss in Shandong Province, China.

Luo J et al.

Annals of Human Genetics, 2017

Association between the p.V37I variant of GJB2 and hearing loss: a pedigree and meta-analysis.

Shen N et al.

Oncotarget, 2017

Mutation Analysis of the Common Deafness Genes in Patients with Nonsyndromic Hearing Loss in Linyi by SNPscan Assay.

Zhang F et al.

Biomed Research International, 2016

Prevalence of GJB2 mutations in the Silk Road region of China and a report of three novel variants.

Du W et al.

Acta Oto-laryngologica, 2014

Construction of a multiplex allele-specific PCR-based universal array (ASPUA) and its application to hearing loss screening.

Li CX et al.

Human Mutation, 2008

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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."