Varaico: Literature-Extracted Genetic Variants

Gene:JAG1
Variant:p.T738T
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JAG1

NM_000214.3:p.T738T

Associated Papers

Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.

Vashisht S et al.

Bmc Genomics, 2025

39838281 (PubMed )
Supplement: 12864_2025_11232_MOESM4_ESM.xlsx › ClinVar_CHD-SNPs_uniq

Somatic mutations in the DNA repairome in prostate cancers in African Americans and Caucasians.

Yadav S et al.

Oncogene, 2020

32300177 (PubMed )
Supplement: 41388_2020_1280_MOESM3_ESM.xlsx › Main_Sheet_

JAG1 Mutation Spectrum and Origin in Chinese Children with Clinical Features of Alagille Syndrome.

Li L et al.

Plos One, 2015

Polymorphism analysis and new JAG1 gene mutations of Alagille syndrome in Mexican population.

Vázquez-Martínez ER et al.

Meta Gene, 2014

Jagged1 (JAG1) mutations in Alagille syndrome: increasing the mutation detection rate.

Warthen DM et al.

Human Mutation, 2006

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."