Additional file 9 of Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics

Name: Additional file 9 of Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics
Creator: 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
Published: 2020-06-18T00:00:00+08:00

Figshare2024-02-28 更新2026-04-08 收录

"RNA研究"

剪接变异预测

数据链接：

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 数据链接链接失效反馈

官方服务：

资源简介：

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