Varaico: Literature-Extracted Genetic Variants

Gene:USH2A
Variant:p.G306S
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USH2A

NM_206933.4:p.G306S

Associated Papers

Molecular and genetic characterization of a large Brazilian cohort presenting hearing loss.

Batissoco AC et al.

Human Genetics, 2022

Variant analysis of 92 Chinese Han families with hearing loss.

Jin X et al.

Bmc Medical Genomics, 2022

Investigation of genotype-phenotype relationship in Turkish patients with inherited retinal disease by next generation sequencing.

Duzkale N et al.

Ophthalmic Genetics, 2021

Comprehensive genetic testing of Chinese SNHL patients and variants interpretation using ACMG guidelines and ethnically matched normal controls.

Yuan Y et al.

European Journal of Human Genetics : Ejhg, 2020

Identification of a novel homozygous mutation, TMPRSS3: c.535G>A, in a Tibetan family with autosomal recessive non-syndromic hearing loss.

Fan D et al.

Plos One, 2014

Genetic Inheritance of Late-Onset, Down-Sloping Hearing Loss and Its Implications for Auditory Rehabilitation.

Song MH 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."