Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A5
Variant:p.P119S
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SLC26A5

NM_198999.3:p.P119S

Associated Papers

Hearing Loss and Audiogenic Seizures Induced by Hypofunctional Prestin Variants.

Takahashi S et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2025

The frequency dependence of prestin-mediated fast electromotility for mammalian cochlear amplification.

Takahashi S et al.

Biorxiv : the Preprint Server for Biology, 2024

Functional Studies of Deafness-Associated Pendrin and Prestin Variants.

Takahashi S et al.

International Journal of Molecular Sciences, 2024

Functional studies of deafness-associated pendrin and prestin variants.

Takahashi S et al.

Biorxiv : the Preprint Server for Biology, 2024

The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands.

Zazo Seco C et al.

European Journal of Human Genetics : Ejhg, 2017

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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."