Article

Genetic diversity and regulatory features of human-specific <i>NOTCH2NL</i> duplications

2025-03-16

Abstract excerpt

<h4>SUMMARY</h4> NOTCH2NL ( NOTCH2 -N-terminus-like) genes arose from ape-specific chromosome 1 segmental duplications implicated in human brain cortical expansion, including an incomplete NOTCH2 gene. Genetic characterization of these loci and their regulation is complicated because they are embedded in large, nearly identical duplications that predispose to recurrent microdeletion syndromes. Using near-comple...

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Literature Corpus work: 94faa0df-76c0-5fd2-be68-2365856b3192
DOI: 10.1101/2025.03.14.643395

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