Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.G334Splc
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SLC26A4

NM_000441.2:p.G334Splc

Associated Papers

Identification of SLC26A4 mutations in patients with hearing loss and enlarged vestibular aqueduct using high-resolution melting curve analysis.

Mercer S et al.

Genetic Testing and Molecular Biomarkers, 2011

Distribution and frequencies of PDS (SLC26A4) mutations in Pendred syndrome and nonsyndromic hearing loss associated with enlarged vestibular aqueduct: a unique spectrum of mutations in Japanese.

Tsukamoto K et al.

European Journal of Human Genetics : Ejhg, 2003

Two Chinese families with Pendred's syndrome--radiological imaging of the ear and molecular analysis of the pendrin gene.

Yong AM et al.

The Journal of Clinical Endocrinology and Metabolism, 2001

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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."