Varaico: Literature-Extracted Genetic Variants

Gene:JAG1
Variant:p.H268Q
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JAG1

NM_000214.3:p.H268Q

Associated Papers

Alagille Syndrome: Unraveling the Complexities of Genotype-Phenotype Relationships and Exploring Avenues for Improved Diagnosis and Treatment.

Sharma P et al.

Cell Biology International, 2025

The developmental origins of Notch-driven intrahepatic bile duct disorders.

Martinez Lyons A et al.

Disease Models & Mechanisms, 2021

Alagille syndrome and non-syndromic paucity of the intrahepatic bile ducts.

Gilbert MA et al.

Translational Gastroenterology and Hepatology, 2021

Alagille syndrome mutation update: Comprehensive overview of JAG1 and NOTCH2 mutation frequencies and insight into missense variant classification.

Gilbert MA et al.

Human Mutation, 2019

Mouse Model of Alagille Syndrome and Mechanisms of Jagged1 Missense Mutations.

Andersson ER et al.

Gastroenterology, 2018

Control of Notch-ligand endocytosis by ligand-receptor interaction.

Hansson EM et al.

Journal of Cell Science, 2010

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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."