Varaico: Literature-Extracted Genetic Variants

Gene:JAG1
Variant:p.W167R
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JAG1

NM_000214.3:p.W167R

Associated Papers

Jag1 represses Notch activation in lateral supporting cells and inhibits an outer hair cell fate in the medial cochlea.

de Haan S et al.

Development (cambridge, England), 2024

39373109 (PubMed )
Supplement: develop-151-202949-s1.pdf

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

Notch Pathway and Inherited Diseases: Challenge and Promise.

Reichrath J et al.

Advances in Experimental Medicine and Biology, 2020

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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."