Varaico: Literature-Extracted Genetic Variants

Gene:JAG1
Variant:p.G867insFs
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JAG1

NM_000214.3:p.G867insFs

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

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

Idiopathic intracranial hypertension in two patients with Alagille syndrome.

Mouzaki M et al.

Journal of Child Neurology, 2010

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."