Varaico: Literature-Extracted Genetic Variants

Gene:USH1C
Variant:p.P608R
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USH1C

NM_153676.4:p.P608R

Associated Papers

Types of Inheritance and Genes Associated with Familial Meniere Disease.

Parra-Perez AM et al.

Journal of the Association for Research in Otolaryngology : Jaro, 2023

Genetics of Usher Syndrome: New Insights From a Meta-analysis.

Jouret G et al.

Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology, 2019

Genomic Landscape and Mutational Signatures of Deafness-Associated Genes.

Azaiez H et al.

American Journal of Human Genetics, 2018

30245029 (PubMed )
Supplement: mmc2.xlsx › Table_S3

Mutation analysis of SLC26A4 (Pendrin) gene in a Brazilian sample of hearing-impaired subjects.

Nonose RW et al.

Bmc Medical Genetics, 2018

Exome sequencing identifies a founder frameshift mutation in an alternative exon of USH1C as the cause of autosomal recessive retinitis pigmentosa with late-onset hearing loss.

Khateb S et al.

Plos One, 2012

[Molecular genetics of Usher syndrome].

Tazetdinov AM et al.

Genetika, 2008

Development of a genotyping microarray for Usher syndrome.

Cremers FP et al.

Journal of Medical Genetics, 2007

The molecular genetics of Usher syndrome.

Ahmed ZM et al.

Clinical Genetics, 2003

Mutations in the alternatively spliced exons of USH1C cause non-syndromic recessive deafness.

Ouyang XM et al.

Human Genetics, 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."