Associated Papers
Functional characterization of 2,832 JAG1 variants supports reclassification for Alagille syndrome and improves guidance for clinical variant interpretation.
Gilbert MA et al.
American Journal of Human Genetics, 2024
39043182 (PubMed )
Supplement: mmc1.pdf
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
Silencing mutations in JAG1 gene may play crucial roles in the pathogenesis of Tetralogy of Fallot.
Safari-Arababadi A et al.
Cellular and Molecular Biology (noisy-le-grand, France), 2018
Mutational analysis of JAG1 gene in non-syndromic tetralogy of Fallot children.
Kola S et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2011
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