Associated Papers
Clinical and genetic characteristics of a large cohort of children with Alagille syndrome: identification of 57 new variants in the JAG1 gene.
Gusarova EA et al.
Journal of Human Genetics, 2026
Investigation of cryptic JAG1 splice variants as a cause of Alagille syndrome and performance evaluation of splice predictor tools.
Keefer-Jacques E et al.
Hgg Advances, 2024
Novel JAG1 variants leading to Alagille syndrome in two Chinese cases.
Feng X et al.
Scientific Reports, 2024
38245625 (PubMed )
Supplement: 41598_2024_52357_MOESM1_ESM.xlsx › Sheet1
Different clinical and genetic features of Alagille patients with progressive disease versus a jaundice-free course.
Chiang CM et al.
Jgh Open : an Open Access Journal of Gastroenterology and Hepatology, 2022
Targeted Sequencing and RNA Assay Reveal a Noncanonical JAG1 Splicing Variant Causing Alagille Syndrome.
Chen Y et al.
Frontiers in Genetics, 2019
32038717 (PubMed )
Supplement: Table_2.pdf
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