Functional characterization of a JAG1 5'UTR variant in a patient with clinically observed Alagille syndrome
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DOI: 10.1111/cge.14179
Abstract: Alagille syndrome (ALGS) is an autosomal dominant disorder characterized by variable abnormalities of liver, heart, face, skeleton, kidneys, vasculature and eyes. It is associated with variants in JAG1 and NOTCH2 , encoding for a NOTCH… read more here.
Keywords: functional characterization; jag1; characterization jag1; alagille syndrome ... See more keywords