Additional file 9 of Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics
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https://springernature.figshare.com/articles/dataset/Additional_file_9_of_Analysis_of_transcript-deleterious_variants_in_Mendelian_disorders_implications_for_RNA-based_diagnostics/12502568/1
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Additional file 9. Table S7. In silico (using SpliceAI, TraP, S-CAP, and CADD) predictions for all transcript-deleterious variants in this cohort that were empirically tested.
提供机构：
Alhebbi, Hamoud; Alenazi, Mona; AlAli, Maha; Ibrahim, Niema; Hashem, Mais; Alzahrani, Fatema; Kuwahara, Hiroyuki; Helaby, Rana; Maddirevula, Sateesh; Alqahtani, Maha; Hanna, Nadine; Alsagheir, Afaf; Ewida, Nour; Alsaif, Hessa S.; Alsaleem, Badr; Abdulwahab, Firdous; Shamseldin, Hanan E.; Wali, Sami; Monies, Dorota; Patel, Nisha; Umarov, Ramzan; AlObeid, Eman; AlSheddi, Tarfa; Derar, Nada; Al Ali, Hatoon; Alkuraya, Fowzan S.; Gao, Xin; Alhashem, Amal
创建时间：
2020-06-18
