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
Functional characterization of 2,832 JAG1 variants supports reclassification for Alagille syndrome and improves guidance for clinical variant interpretation.
Gilbert MA et al.
American Journal of Human Genetics, 2024
39043182 (PubMed )
Supplement: mmc4.xlsx › Sheet1
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_
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
Alagille syndrome inherited from a phenotypically normal mother with a mosaic 20p microdeletion.
Laufer-Cahana A et al.
American Journal of Medical Genetics, 2002
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