Associated Papers
Refined variant calling pipeline on RNA-seq data of breast cancer cell lines without matched-normal samples.
Eberth S et al.
Bmc Research Notes, 2025
39955561 (PubMed )
Supplement: 13104_2025_7140_MOESM3_ESM.xlsx › snv_indel_maf_less20_Project_bc
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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