Varaico: Literature-Extracted Genetic Variants

Gene:JAG1
Variant:p.E228_C229insFs
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JAG1

NM_000214.3:p.E228_C229insFs

Associated Papers

Clinical, Laboratory, Radiological, and Genetic Characteristics of Pediatric Patients with Alagille Syndrome.

Isa HM et al.

Advanced Biomedical Research, 2023

Familial Tetralogy of Fallot caused by mutation in the jagged1 gene.

Eldadah ZA et al.

Human Molecular Genetics, 2001

Jagged1 mutations in patients ascertained with isolated congenital heart defects.

Krantz ID et al.

American Journal of Medical Genetics, 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."