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Analysis of transcript-deleterious variants in Mendelian di..:
Sateesh Maddirevula
;
Hiroyuki Kuwahara
;
Nour Ewida
...
http://link.springer.com/article/10.1186/s13059-020-02053-9. , 2020
Link:
https://doi.org/10.1186/s13059-020-02053-9
RT Journal T1
Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics
UL https://suche.suub.uni-bremen.de/peid=base-ftdoajarticles:oai:doaj.org_article:052ae740d08a4962859a648a9b6078b5&Exemplar=1&LAN=DE A1 Sateesh Maddirevula A1 Hiroyuki Kuwahara A1 Nour Ewida A1 Hanan E. Shamseldin A1 Nisha Patel A1 Fatema Alzahrani A1 Tarfa AlSheddi A1 Eman AlObeid A1 Mona Alenazi A1 Hessa S. Alsaif A1 Maha Alqahtani A1 Maha AlAli A1 Hatoon Al Ali A1 Rana Helaby A1 Niema Ibrahim A1 Firdous Abdulwahab A1 Mais Hashem A1 Nadine Hanna A1 Dorota Monies A1 Nada Derar A1 Afaf Alsagheir A1 Amal Alhashem A1 Badr Alsaleem A1 Hamoud Alhebbi A1 Sami Wali A1 Ramzan Umarov A1 Xin Gao A1 Fowzan S. Alkuraya PB BMC YR 2020 K1 Negative WES K1 RNA-based diagnostics K1 Mapping K1 Mendelian K1 Transcriptomics K1 Biology (General) K1 QH301-705.5 K1 Genetics K1 QH426-470 JF http://link.springer.com/article/10.1186/s13059-020-02053-9 LK http://dx.doi.org/https://doi.org/10.1186/s13059-020-02053-9 DO https://doi.org/10.1186/s13059-020-02053-9 SF ELIB - SuUB Bremen
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