Associated Papers
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: mmc3.xlsx › Benign_Variant_Truth_Set
Contributions of Germline and Somatic Mosaic Genetics to Thoracic Aortic Aneurysms in Nonsyndromic Individuals.
Chen MH et al.
Journal of the American Heart Association, 2024
38958128 (PubMed )
Supplement: JAH3-13-e033232-s001.pdf
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