Associated Papers
Genomic landscape of patients with germline RUNX1 variants and familial platelet disorder with myeloid malignancy.
Yu K et al.
Blood Advances, 2024
38019014 (PubMed )
Supplement: BLOODA_ADV-2023-011165-mmc2.xlsx › Figure_S9A
Whole exome sequencing of 28 families of Danish descent reveals novel candidate genes and pathways in developmental dysplasia of the hip.
Dembic M et al.
Molecular Genetics and Genomics : Mgg, 2023
36454308 (PubMed )
Supplement: 438_2022_1980_MOESM8_ESM.xlsx › Deleterious_variants
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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