Varaico: Literature-Extracted Genetic Variants

Gene:JAG1
Variant:p.A232Splc
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JAG1

NM_000214.3:p.A232Splc

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

Clinical Characterization of Alagille Syndrome in Patients with Cholestatic Liver Disease.

Semenova N et al.

International Journal of Molecular Sciences, 2023

Gene symbol: G6PD. Disease: Glucose-6-phosphate dehydrogenase deficiency.

Han L

Human Genetics, 2008

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."