Associated Papers
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
39244638 (PubMed )
Supplement: mmc2.xlsx › Sheet1
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
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
Polymorphism analysis and new JAG1 gene mutations of Alagille syndrome in Mexican population.
Vázquez-Martínez ER et al.
Meta Gene, 2014
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