Varaico: Literature-Extracted Genetic Variants

Gene:JAG1
Variant:p.E48*
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JAG1

NM_000214.3:p.E48*

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

Spectrum of JAG1 gene mutations in Polish patients with Alagille syndrome.

Jurkiewicz D et al.

Journal of Applied Genetics, 2014

Prenatal molecular diagnosis of inherited cholestatic diseases.

Jung C et al.

Journal of Pediatric Gastroenterology and Nutrition, 2007

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

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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."