Associated Papers
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
Clinical and Laboratory Characteristics in Children with Alagille Syndrome: Experience of a Single Center.
Li D et al.
International Journal of General Medicine, 2023
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
Genomic analyses reveal mutational signatures and frequently altered genes in esophageal squamous cell carcinoma.
Zhang L et al.
American Journal of Human Genetics, 2015
25839328 (PubMed )
Supplement: mmc4.xlsx › Table_S3._Mutation_cohort
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