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: mmc4.xlsx › Sheet1
Targeted-Capture Next-Generation Sequencing in Diagnosis Approach of Pediatric Cholestasis.
Almes M et al.
Diagnostics (basel, Switzerland), 2022
35626323 (PubMed )
Supplement: diagnostics-12-01169-s001.zip › diagnostics-1660539-supplementary.pdf
Physiology and pathology of notch signalling system.
Bianchi S et al.
Journal of Cellular Physiology, 2006
CADASIL: a critical look at a Notch disease.
Louvi A et al.
Developmental Neuroscience, 2006
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