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_MOESM2_ESM.xlsx › cosmic_mut_bc_mut_gatk_hc_dbsnp
Homozygous missense variant F12 (Gly506Asp) associated with severe factor XII deficiency: a case report.
Aljabry M et al.
Journal of Medical Case Reports, 2023
Factor XII deficiency: a clinical and molecular genetic study.
Demidova E et al.
International Journal of Hematology, 2023
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