Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.S314*
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SLC26A4

NM_000441.2:p.S314*

Associated Papers

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

Mapping pathogenic mutations suggests an innovative structural model for the pendrin (SLC26A4) transmembrane domain.

Bassot C et al.

Biochimie, 2017

Two missense mutations in SLC26A4 gene: a molecular and functional study.

Rebeh IB et al.

Clinical Genetics, 2010

Identification of a novel mutation in the SLC26A4 gene in an Italian with fluctuating sensorineural hearing loss.

Cama E et al.

International Journal of Pediatric Otorhinolaryngology, 2009

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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."