Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.G149E
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SLC26A4

NM_000441.2:p.G149E

Associated Papers

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

Bassot C et al.

Biochimie, 2017

Molecular analysis of SLC26A4 gene in patients with nonsyndromic hearing loss and EVA: identification of two novel mutations in Brazilian patients.

de Moraes VC et al.

International Journal of Pediatric Otorhinolaryngology, 2013

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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."