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
Whole-exome sequencing identifies Y1495X of SCN5A to be associated with familial conduction disease and sudden death.
Tan ZP et al.
Scientific Reports, 2014
25010007 (PubMed )
Supplement: srep05616-s2.xls › dominant_result_new
Select a paper to view details