Additional file 5 of Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics
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Additional file 5. Table S4. Full list of negative clinical WES cases and the outcome of their analysis by RNA studies and other tools. ‘A’ indicates a novel gene/novel gene for the condition.
提供机构：
Derar, Nada; AlAli, Maha; Al Ali, Hatoon; Helaby, Rana; AlObeid, Eman; Alhebbi, Hamoud; Alenazi, Mona; Gao, Xin; Patel, Nisha; Ewida, Nour; Hashem, Mais; Alkuraya, Fowzan S.; Alsaif, Hessa S.; Umarov, Ramzan; Ibrahim, Niema; Shamseldin, Hanan E.; Maddirevula, Sateesh; Hanna, Nadine; Alqahtani, Maha; Abdulwahab, Firdous; Wali, Sami; Monies, Dorota; Alsaleem, Badr; Kuwahara, Hiroyuki; AlSheddi, Tarfa; Alsagheir, Afaf; Alzahrani, Fatema; Alhashem, Amal
创建时间：
2020-06-18
