Varaico: Literature-Extracted Genetic Variants

Gene:JAG1
Variant:p.A138_W139insFs
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JAG1

NM_000214.3:p.A138_W139insFs

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

Genetic insights into non-syndromic Tetralogy of Fallot.

Althali NJ et al.

Frontiers in Physiology, 2022

Novel and recurrent JAG1 mutations in patients with tetralogy of Fallot.

Guida V et al.

Clinical Genetics, 2011

Jagged1 (JAG1) mutations in patients with tetralogy of Fallot or pulmonic stenosis.

Bauer RC et al.

Human Mutation, 2010

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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."