Publications:

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

Genome Biology

Maddirevula, Sateesh S; Kuwahara, Hiroyuki H; Ewida, Nour N; Shamseldin, Hanan E HE; Patel, Nisha N; Alzahrani, Fatema F; AlSheddi, Tarfa T; AlObeid, Eman E; Alenazi, Mona M; Alsaif, Hessa S HS; Alqahtani, Maha M; AlAli, Maha M; Al Ali, Hatoon H; Helaby, Rana R; Ibrahim, Niema N; Abdulwahab, Firdous F; Hashem, Mais M; Hanna, Nadine N; Monies, Dorota D; Derar, Nada N; Alsagheir, Afaf A; Alhashem, Amal A; Alsaleem, Badr B; Alhebbi, Hamoud H; Wali, Sami S; Umarov, Ramzan R; Gao, Xin X; Alkuraya, Fowzan S FS

Publication Date: 2020-06-17

Variant appearance in text: ABCB4: 3838T>A

PubMed Link: 32552793

Variant Present in the following documents:

• 13059_2020_2053_MOESM4_ESM.xlsx, sheet 1

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Clinical utility of genomic analysis in adults with idiopathic liver disease.

Journal Of Hepatology

Hakim, Aaron A; Zhang, Xuchen X; DeLisle, Angela A; Oral, Elif A EA; Dykas, Daniel D; Drzewiecki, Kaela K; Assis, David N DN; Silveira, Marina M; Batisti, Jennifer J; Jain, Dhanpat D; Bale, Allen A; Mistry, Pramod K PK; Vilarinho, Silvia S

Publication Date: 2019-06

Variant appearance in text: ABCB4: 3838T>A

PubMed Link: 31000363

Variant Present in the following documents:

• Main text

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