Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics.

Sateesh Maddirevula, Hiroyuki Kuwahara, Nour Ewida, Hanan E Shamseldin, Nisha Patel, Fatema AlZahrani, Tarfa AlSheddi, Eman AlObeid, Mona Alenazi, Hessa S Alsaif, Maha Alqahtani, Maha AlAli, Hatoon Al Ali, Rana Helaby, Niema Ibrahim, Firdous Abdulwahab, Mais Hashem, Nadine Hanna, Dorota Monies, Nada DerarAfaf Alsagheir, Amal Alhashem, Badr Alsaleem, Hamoud Alhebbi, Sami Wali, Ramzan Umarov, Xin Gao, Fowzan S. Alkuraya

Research output: Contribution to journalArticlepeer-review

53 Scopus citations

Fingerprint

Dive into the research topics of 'Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics.'. Together they form a unique fingerprint.

Medicine and Dentistry

Immunology and Microbiology

Biochemistry, Genetics and Molecular Biology

Neuroscience

Keyphrases