Varaico: Literature-Extracted Genetic Variants

Gene:JAG1
Variant:p.C863insFs
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JAG1

NM_000214.3:p.C863insFs

Associated Papers

Jagged1 (JAG1) mutation detection in an Australian Alagille syndrome population.

Heritage ML et al.

Human Mutation, 2000

Jagged-1 mutation analysis in Italian Alagille syndrome patients.

Pilia G et al.

Human Mutation, 1999

Spectrum and frequency of jagged1 (JAG1) mutations in Alagille syndrome patients and their families.

Krantz ID et al.

American Journal of Human Genetics, 1998

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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."