Varaico: Literature-Extracted Genetic Variants

Gene:JAG1
Variant:p.K65M
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JAG1

NM_000214.3:p.K65M

Associated Papers

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: mmc1.pdf

Structural and functional dissection of the interplay between lipid and Notch binding by human Notch ligands.

Suckling RJ et al.

The Embo Journal, 2017

Alagille Syndrome Mimicking Biliary Atresia in Early Infancy.

Dědič T et al.

Plos One, 2015

26618708 (PubMed )
Supplement: pone.0143939.s003.xlsx › List1

The significance of human jagged 1 mutations detected in severe cases of extrahepatic biliary atresia.

Kohsaka T et al.

Hepatology (baltimore, Md.), 2002

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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."