Investigation of cryptic JAG1 splice variants as a cause of Alagille syndrome and performance evaluation of splice predictor tools

Summary: Haploinsufficiency of JAG1 is the primary cause of Alagille syndrome (ALGS), a rare, multisystem disorder. The identification of JAG1 intronic variants outside of the canonical splice region as well as missense variants, both of which lead to uncertain associations with disease, confuses di...

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Main Authors:	Ernest Keefer-Jacques, Nicolette Valente, Anastasia M. Jacko, Grace Matwijec, Apsara Reese, Aarna Tekriwal, Kathleen M. Loomes, Nancy B. Spinner, Melissa A. Gilbert
Format:	Artigo
Language:	Inglês
Published:	Elsevier 2024-10-01
Series:	HGG Advances
Subjects:	Alagille syndrome ALGS JAG1 splicing cryptic splicing variants SpliceAI
Online Access:	http://www.sciencedirect.com/science/article/pii/S2666247724000915
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