Varaico: Literature-Extracted Genetic Variants

Gene:USH1C
Variant:p.R3*
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USH1C

NM_153676.4:p.R3*

Associated Papers

Genes linked to hearing and vestibular phenotypes in humans and mice: an interspecies systematic review.

Ayoub C et al.

Human Genomics, 2025

41430327 (PubMed )
Supplement: 40246_2025_891_MOESM1_ESM.xlsx › Supplementary_Table_S2.

The genetic landscape of inherited retinal dystrophies in Arabs.

Jaffal L et al.

Bmc Medical Genomics, 2023

37127645 (PubMed )
Supplement: 12920_2023_1518_MOESM2_ESM.xlsx › Sheet1

Clinical and genetic spectrums of 413 North African families with inherited retinal dystrophies and optic neuropathies.

Bouzidi A et al.

Orphanet Journal of Rare Diseases, 2022

35551639 (PubMed )
Supplement: 13023_2022_2340_MOESM3_ESM.xlsx › Feuil1

Usher Syndrome.

Castiglione A et al.

Audiology Research, 2022

Syndromic hearing loss molecular diagnosis: Application of massive parallel sequencing.

Soares de Lima Y et al.

Hearing Research, 2018

Genetic analysis of Tunisian families with Usher syndrome type 1: toward improving early molecular diagnosis.

Ben-Rebeh I et al.

Molecular Vision, 2016

Gene structure and mutant alleles of PCDH15: nonsyndromic deafness DFNB23 and type 1 Usher syndrome.

Ahmed ZM et al.

Human Genetics, 2008

In vitro and ex vivo suppression by aminoglycosides of PCDH15 nonsense mutations underlying type 1 Usher syndrome.

Rebibo-Sabbah A et al.

Human Genetics, 2007

PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23.

Ahmed ZM et al.

Human Molecular Genetics, 2003

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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."