Associated Papers
Pathogenic germline IKZF1 variant alters hematopoietic gene expression profiles.
Brodie SA et al.
Cold Spring Harbor Molecular Case Studies, 2021
34162668 (PubMed )
Supplement: supp_mcs.a006015_Supplemental_TableS1-extended-variants.xlsx › Table_S2
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.
Wang M et al.
Scientific Reports, 2016
27527004 (PubMed )
Supplement: srep31321-s4.xls › SwissvarFilteredMix
Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney Disease.
Schmidts M et al.
Human Mutation, 2013
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