Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.P516S
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SLC26A4

NM_000441.2:p.P516S

Associated Papers

Asymmetric pendrin homodimer reveals its molecular mechanism as anion exchanger.

Liu Q et al.

Nature Communications, 2023

37230976 (PubMed )
Supplement: 41467_2023_38303_MOESM3_ESM.xlsx › Sheet1

Molecular diagnosis of SLC26A4-related hereditary hearing loss in a group of patients from two provinces of Iran.

Koohiyan M et al.

Intractable & Rare Diseases Research, 2021

Novel pathogenic variants underlie SLC26A4-related hearing loss in a multiethnic cohort.

Cengiz FB et al.

International Journal of Pediatric Otorhinolaryngology, 2017

Diagnostic Value of SLC26A4 Mutation Status in Hereditary Hearing Loss With EVA: A PRISMA-Compliant Meta-Analysis.

Lu YJ et al.

Medicine, 2015

26683941 (PubMed )
Supplement: medi-94-e2248-s002.xls › Sheet1

KCNJ10 may not be a contributor to nonsyndromic enlargement of vestibular aqueduct (NSEVA) in Chinese subjects.

Zhao J et al.

Plos One, 2014

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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."