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: mmc3.xlsx › Pathogenic_Variant_Truth_Set
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
Expression of mutant JAGGED1 alleles in patients with Alagille syndrome.
Boyer J et al.
Human Genetics, 2005
Defective intracellular transport and processing of JAG1 missense mutations in Alagille syndrome.
Morrissette JD et al.
Human Molecular Genetics, 2001
Select a paper to view details