Associated Papers
Patient-specific genomics and cross-species functional analysis implicate LRP2 in hypoplastic left heart syndrome.
Theis JL et al.
Elife, 2020
33006316 (PubMed )
Supplement: elife-59554-supp3.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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