Varaico: Literature-Extracted Genetic Variants

Gene:JAG1
Variant:p.A31insFs
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JAG1

NM_000214.3:p.A31insFs

Associated Papers

A Retrospective Study of Clinical and Genetic Features in a Long-Term Cohort of Mexican Children with Alagille Syndrome.

Vázquez-Frias R et al.

International Journal of Molecular Sciences, 2025

Clinical, Laboratory, Radiological, and Genetic Characteristics of Pediatric Patients with Alagille Syndrome.

Isa HM et al.

Advanced Biomedical Research, 2023

Alagille Syndrome: A Novel Mutation in JAG1 Gene.

Fischetto R et al.

Frontiers in Pediatrics, 2019

A Novel c.91dupG JAG1 Gene Mutation Is Associated with Early Onset and Severe Alagille Syndrome.

Reyes-de la Rosa ADP et al.

Case Reports in Genetics, 2018

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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."