Associated Papers
Molecular underpinnings of dedifferentiation and aggressiveness in chromophobe renal cell carcinoma.
Kapur P et al.
Jci Insight, 2024
38775158 (PubMed )
Supplement: jciinsight-9-176743-s288.xlsx › Table_S5
Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools.
Sebate B et al.
Plos One, 2021
33770142 (PubMed )
Supplement: pone.0249324.s003.xlsx › 8772__III-8__
A loss-of-function homozygous mutation in DDX59 implicates a conserved DEAD-box RNA helicase in nervous system development and function.
Salpietro V et al.
Human Mutation, 2018
29127725 (PubMed )
Supplement: HUMU-39-187-s001.pdf
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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