Varaico: Literature-Extracted Genetic Variants

Gene:USH1C
Variant:p.P79delFs
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USH1C

NM_153676.4:p.P79delFs

Associated Papers

Identification of known and novel genetic variants in sensorineural hearing loss: insights from whole exome sequencing in Indian families.

Jagannath K et al.

Molecular Biology Reports, 2025

CO-OCCURRING USHER SYNDROME TYPE 1 AND RENAL FAILURE.

Le H et al.

Retinal Cases & Brief Reports, 2025

Genetic analysis of 106 sporadic cases with hearing loss in the UAE population.

Tlili A et al.

Human Genomics, 2024

Genetics Landscape of Nonsyndromic Hearing Loss in Indian Populations.

Ray M et al.

Journal of Pediatric Genetics, 2022

Targeted next-generation sequencing of deaf patients from Southwestern China.

Li Y et al.

Molecular Genetics & Genomic Medicine, 2021

Heterogeneity of Hereditary Hearing Loss in Iran: a Comprehensive Review.

Beheshtian M et al.

Archives of Iranian Medicine, 2016

The Genetic Basis of Nonsyndromic Hearing Loss in Indian and Pakistani Populations.

Yan D et al.

Genetic Testing and Molecular Biomarkers, 2015

Autosomal recessive nonsyndromic deafness genes: a review.

Duman D et al.

Frontiers in Bioscience (landmark Edition), 2012

Hereditary deafness and phenotyping in humans.

Bitner-Glindzicz M

British Medical Bulletin, 2002

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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."