Varaico: Literature-Extracted Genetic Variants

Gene:JAG1
Variant:p.I742fs
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JAG1

NM_000214.3:p.I742fs

Associated Papers

GenTIGS: a database empowering research and clinical insights on rare genetic disorders with an Indian perspective.

Rashid I et al.

Nar Genomics and Bioinformatics, 2025

41229399 (PubMed )
Supplement: lqaf143_supplemental_file.xls › Pathogenic

JAG1 mutations are found in approximately one third of patients presenting with only one or two clinical features of Alagille syndrome.

Guegan K et al.

Clinical Genetics, 2012

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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."