Varaico: Literature-Extracted Genetic Variants

Gene:EXPH5
Variant:p.D777N
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EXPH5

NM_015065.3:p.D777N

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_MOESM3_ESM.xlsx › Table_S2
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