Varaico: Literature-Extracted Genetic Variants

Gene:COL22A1
Variant:p.E308G
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COL22A1

NM_152888.3:p.E308G

Associated Papers

Exome sequencing identifies SLC26A4, GJB2, SCARB2 and DUOX2 mutations in 2 siblings with Pendred syndrome in a Malaysian family.

Chow YP et al.

Orphanet Journal of Rare Diseases, 2017

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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."