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
Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay Secondary to a Novel Mutation in the SACS Gene.
Sahib A et al.
Annals of Indian Academy of Neurology, 2024
Sporadic Hirschsprung Disease: Mutational Spectrum and Novel Candidate Genes Revealed by Next-generation Sequencing.
Zhang Z et al.
Scientific Reports, 2017
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