Varaico: Literature-Extracted Genetic Variants

Gene:JAG1
Variant:p.S158*
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JAG1

NM_000214.3:p.S158*

Associated Papers

Clinical and genetic characteristics of a large cohort of children with Alagille syndrome: identification of 57 new variants in the JAG1 gene.

Gusarova EA et al.

Journal of Human Genetics, 2026

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 Characterization of Alagille Syndrome in Patients with Cholestatic Liver Disease.

Semenova N et al.

International Journal of Molecular Sciences, 2023

Identification of 36 novel Jagged1 (JAG1) mutations in patients with Alagille syndrome.

Röpke A et al.

Human Mutation, 2003

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."