Targeted Sequencing and RNA Assay Reveal a Noncanonical JAG1 Splicing Variant Causing Alagille Syndrome
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DOI: 10.3389/fgene.2019.01363
Abstract: Alagille syndrome (ALGS), as known as congenital arteriohepatic dysplasia, is a rare autosomal dominant multi-systemic disorder. Mutations in JAG1 or more rarely NOTCH2 have been reported as the cause of ALGS. In this study, a… read more here.
Keywords: jag1 splicing; sequencing rna; rna assay; alagille syndrome ... See more keywords