Varaico: Literature-Extracted Genetic Variants

Gene:JAG1
Variant:p.L79H
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JAG1

NM_000214.3:p.L79H

Associated Papers

Genetic survey of Ivermectin-resistance markers in head lice from Jazan, Saudi Arabia.

Zelai NT

Infection, Genetics and Evolution : Journal of Molecular Epidemiology and Evolutionary Genetics in Infectious Diseases, 2026

Functional characterization of 2,832 JAG1 variants supports reclassification for Alagille syndrome and improves guidance for clinical variant interpretation.

Gilbert MA et al.

American Journal of Human Genetics, 2024

39043182 (PubMed )
Supplement: mmc3.xlsx › Pathogenic_Variant_Truth_Set

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

Dominant mutations of the Notch ligand Jagged1 cause peripheral neuropathy.

Sullivan JM et al.

The Journal of Clinical Investigation, 2020

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."