Varaico: Literature-Extracted Genetic Variants

Gene:JAG1
Variant:p.W128*
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JAG1

NM_000214.3:p.W128*

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

Different clinical and genetic features of Alagille patients with progressive disease versus a jaundice-free course.

Chiang CM et al.

Jgh Open : an Open Access Journal of Gastroenterology and Hepatology, 2022

Polymorphism analysis and new JAG1 gene mutations of Alagille syndrome in Mexican population.

Vázquez-Martínez ER et al.

Meta Gene, 2014

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

Jurkiewicz D et al.

Journal of Applied Genetics, 2014

Twelve novel JAG1 gene mutations in Polish Alagille syndrome patients.

Jurkiewicz D et al.

Human Mutation, 2005

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."