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
Dominant mutations of the Notch ligand Jagged1 cause peripheral neuropathy.
Sullivan JM et al.
The Journal of Clinical Investigation, 2020
Alagille syndrome mutation update: Comprehensive overview of JAG1 and NOTCH2 mutation frequencies and insight into missense variant classification.
Gilbert MA et al.
Human Mutation, 2019
The tetralogy of Fallot-associated G274D mutation impairs folding of the second epidermal growth factor repeat in Jagged-1.
Guarnaccia C et al.
The Febs Journal, 2009
Jagged1 (JAG1) mutations in Alagille syndrome: increasing the mutation detection rate.
Warthen DM et al.
Human Mutation, 2006
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