Varaico: Literature-Extracted Genetic Variants

Gene:JAG1
Variant:p.Q147Splc
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JAG1

NM_000214.3:p.Q147Splc

Associated Papers

Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.

Vashisht S et al.

Bmc Genomics, 2025

39838281 (PubMed )
Supplement: 12864_2025_11232_MOESM6_ESM.xlsx › Sheet1

Previously Undescribed Family Mutation in the JAG1 Gene as a Cause for Alagille Syndrome.

Muñoz-Aguilar G et al.

Journal of Pediatric Gastroenterology and Nutrition, 2017

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

Vázquez-Martínez ER et al.

Meta Gene, 2014

Putative role of specific JAG1 gene exons in modulating clinical features in patients with leukoencephalopathy.

Ungaro C et al.

Neuroscience Letters, 2007

Jagged1 (JAG1) mutations in Alagille syndrome: increasing the mutation detection rate.

Warthen DM et al.

Human Mutation, 2006

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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."