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
Genes, proteins and complexes: the multifaceted nature of FHL family proteins in diverse tissues.
Shathasivam T et al.
Journal of Cellular and Molecular Medicine, 2010
Identification of 36 novel Jagged1 (JAG1) mutations in patients with Alagille syndrome.
Röpke A et al.
Human Mutation, 2003
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