Associated Papers
Whole exome sequencing identified mutations causing hearing loss in five consanguineous Pakistani families.
Zhou Y et al.
Bmc Medical Genetics, 2020
32682410 (PubMed )
Supplement: 12881_2020_1087_MOESM1_ESM.xlsx › HL3
Increased burden of rare deleterious variants of the KCNQ1 gene in patients with large‑vessel ischemic stroke.
Janicki PK et al.
Molecular Medicine Reports, 2019
30816480 (PubMed )
Supplement: supplement_2.pdf
De novo mutations in moderate or severe intellectual disability.
Hamdan FF et al.
Plos Genetics, 2014
25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1464.524
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