Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.L458P
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SLC26A4

NM_000441.2:p.L458P

Associated Papers

Targeted Linked-Read Sequencing for Direct Haplotype Phasing of Parental GJB2/SLC26A4 Alleles: A Universal and Dependable Noninvasive Prenatal Diagnosis Method Applied to Autosomal Recessive Nonsyndromic Hearing Loss in At-Risk Families.

Gao B et al.

The Journal of Molecular Diagnostics : Jmd, 2024

Preimplantation genetic testing for hereditary hearing loss in Chinese population.

Bi Q et al.

Journal of Assisted Reproduction and Genetics, 2023

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

Computational analysis of functional single nucleotide polymorphisms associated with SLC26A4 gene.

Hasnain MJU et al.

Plos One, 2020

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."