Additional file 5 of Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics

Name: Additional file 5 of Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics
Creator: 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
Published: 2020-06-18T00:00:00+08:00

Figshare2024-02-28 更新2026-04-08 收录

"RNA研究"

外显子测序

数据链接：

https://springernature.figshare.com/articles/dataset/Additional_file_5_of_Analysis_of_transcript-deleterious_variants_in_Mendelian_disorders_implications_for_RNA-based_diagnostics/12502529/1 数据链接链接失效反馈

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资源简介：

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