Varaico: Literature-Extracted Genetic Variants

Gene:SLC22A4
Variant:p.C113Y
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SLC22A4

NM_003059.3:p.C113Y

Associated Papers

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

Genetics and meta-analysis of recessive non-syndromic hearing impairment and Usher syndrome in Maghreb population: lessons from the past, contemporary actualities and future challenges.

Souissi A et al.

Human Genetics, 2022

Novel pathogenic mutations and further evidence for clinical relevance of genes and variants causing hearing impairment in Tunisian population.

Souissi A et al.

Journal of Advanced Research, 2021

SLC22A4 Gene in Hereditary Non-syndromic Hearing Loss: Recurrence and Incomplete Penetrance of the p.C113Y Mutation in Northwest Africa.

Chiereghin C et al.

Frontiers in Genetics, 2021

Indispensable Role of Ion Channels and Transporters in the Auditory System.

Mittal R et al.

Journal of Cellular Physiology, 2017

Carnitine transport and fatty acid oxidation.

Longo N et al.

Biochimica Et Biophysica Acta, 2016

A mutation in SLC22A4 encoding an organic cation transporter expressed in the cochlea strial endothelium causes human recessive non-syndromic hearing loss DFNB60.

Ben Said M et al.

Human Genetics, 2016

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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."