Varaico: Literature-Extracted Genetic Variants

Gene:JAG1
Variant:p.Q390*
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JAG1

NM_000214.3:p.Q390*

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

Expression of mutant JAGGED1 alleles in patients with Alagille syndrome.

Boyer J et al.

Human Genetics, 2005

Jagged1 mutations in alagille syndrome.

Spinner NB et al.

Human Mutation, 2001

Jagged1 (JAG1) mutation detection in an Australian Alagille syndrome population.

Heritage ML et al.

Human Mutation, 2000

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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."