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
Loss of ATRX, genome instability, and an altered DNA damage response are hallmarks of the alternative lengthening of telomeres pathway.
Lovejoy CA et al.
Plos Genetics, 2012
22829774 (PubMed )
Supplement: pgen.1002772.s010.xlsx › Sheet1
Select a paper to view details