Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A1
Variant:p.W464delFs
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SLC26A1

NM_022042.4:p.W464delFs

Associated Papers

SLC26A4/PDS genotype-phenotype correlation in hearing loss with enlargement of the vestibular aqueduct (EVA): evidence that Pendred syndrome and non-syndromic EVA are distinct clinical and genetic entities.

Pryor SP et al.

Journal of Medical 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."