Varaico: Literature-Extracted Genetic Variants

Gene:JAG1
Variant:p.F35F
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JAG1

NM_000214.3:p.F35F

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: mmc4.xlsx › Sheet1

Jagged1 (JAG1) mutations in Alagille syndrome: increasing the mutation detection rate.

Warthen DM et al.

Human Mutation, 2006

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."