Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.E625*
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SLC26A4

NM_000441.2:p.E625*

Associated Papers

Genes linked to hearing and vestibular phenotypes in humans and mice: an interspecies systematic review.

Ayoub C et al.

Human Genomics, 2025

41430327 (PubMed )
Supplement: 40246_2025_891_MOESM1_ESM.xlsx › Supplementary_Table_S2.

Homology of pendrin, sodium-iodide symporter and apical iodide transporter.

Benvenga S et al.

Frontiers in Bioscience (landmark Edition), 2018

Molecular analysis of human solute carrier SLC26 anion transporter disease-causing mutations using 3-dimensional homology modeling.

Rapp C et al.

Biochimica Et Biophysica Acta. Biomembranes, 2017

Correlation between genotype and phenotype in patients with bi-allelic SLC26A4 mutations.

Lee HJ et al.

Clinical Genetics, 2014

Intrafamilial phenotypic variability in families with biallelic SLC26A4 mutations.

Song MH et al.

The Laryngoscope, 2014

Molecular and functional characterization of human pendrin and its allelic variants.

Dossena S et al.

Cellular Physiology and Biochemistry : International Journal of Experimental Cellular Physiology, Biochemistry, and Pharmacology, 2011

Functional characterization of wild-type and mutated pendrin (SLC26A4), the anion transporter involved in Pendred syndrome.

Dossena S et al.

Journal of Molecular Endocrinology, 2009

Molecular etiology of hearing impairment in Inner Mongolia: mutations in SLC26A4 gene and relevant phenotype analysis.

Dai P et al.

Journal of Translational Medicine, 2008

Heterogeneity in the processing defect of SLC26A4 mutants.

Yoon JS et al.

Journal of Medical Genetics, 2008

Genetic basis of hearing loss associated with enlarged vestibular aqueducts in Koreans.

Park HJ et al.

Clinical Genetics, 2005

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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."