Heterozygous NOTCH1 Variants Cause CNS Immune Activation and Microangiopathy
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DOI: 10.1002/ana.26477
Abstract: NOTCH1 belongs to the NOTCH family of proteins that regulate cell fate and inflammatory responses. Somatic and germline NOTCH1 variants have been implicated in cancer, Adams‐Oliver syndrome, and cardiovascular defects. We describe 7 unrelated patients… read more here.
Keywords: variants cause; cns immune; notch1 variants; heterozygous notch1 ... See more keywords