Associated Papers
Germline recessive mutations in PI4KA are associated with perisylvian polymicrogyria, cerebellar hypoplasia and arthrogryposis.
Pagnamenta AT et al.
Human Molecular Genetics, 2015
25855803 (PubMed )
Supplement: supp_ddv117_ddv117supp_table2.xls › Table_S2
Gain-of-function mutation in TASK-4 channels and severe cardiac conduction disorder.
Friedrich C et al.
Embo Molecular Medicine, 2014
24972929 (PubMed )
Supplement: emmm0006-0937-SD2.pdf
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