Varaico: Literature-Extracted Genetic Variants

Gene:ACTL10
Variant:p.S16C
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ACTL10

NM_001024675.2:p.S16C

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

28222800 (PubMed )
Supplement: 13023_2017_575_MOESM2_ESM.xlsx › Table_S1
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