Associated Papers
Morphogenetic defects underlie Superior Coloboma, a newly identified closure disorder of the dorsal eye.
Hocking JC et al.
Plos Genetics, 2018
29522511 (PubMed )
Supplement: pgen.1007246.s002.xlsx › Sheet1
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
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