Varaico: Literature-Extracted Genetic Variants

Gene:JAG1
Variant:p.S747insFs
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JAG1

NM_000214.3:p.S747insFs

Associated Papers

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

Screening for Alagille syndrome mutations in the JAG1 and NOTCH2 genes using denaturing high-performance liquid chromatography.

Samejima H et al.

Genetic Testing, 2007

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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."