Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.E384Q
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SLC26A4

NM_000441.2:p.E384Q

Associated Papers

Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.

Jain R et al.

Genetics in Medicine Open, 2025

40893834 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_1

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

Mutation spectrum of non-syndromic hearing loss in the UAE, a retrospective cohort study and literature review.

Elsayed O et al.

Molecular Genetics & Genomic Medicine, 2022

Genetic etiology of hereditary hearing loss in the Gulf Cooperation Council countries.

Al Mutery A et al.

Human Genetics, 2022

Clinical heterogeneity of the SLC26A4 gene in UAE patients with hearing loss and bioinformatics investigation of DFNB4/Pendred syndrome missense mutations.

Chouchen J et al.

International Journal of Pediatric Otorhinolaryngology, 2021

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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."