Associated Papers
A Rare Variant in MDH2 (rs111879470) Is Associated with Predisposition to Recurrent Breast Cancer in an Extended High-Risk Pedigree.
Cannon-Albright LA et al.
Cancers, 2023
38136396 (PubMed )
Supplement: cancers-15-05851-s001.zip › cancers-2619236-supplementary_MDH2_V2.xlsx › Table_S1
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
De novo mutations in moderate or severe intellectual disability.
Hamdan FF et al.
Plos Genetics, 2014
25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 794.308
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