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Article

Impaired Human Cardiac Cell Development due to NOTCH1 Deficiency

30 Dec 2022

Abstract excerpt

Background: NOTCH1 pathogenic variants are implicated in multiple types of congenital heart defects including hypoplastic left heart syndrome, where the left ventricle is underdeveloped. It is unknown how NOTCH1 regulates human cardiac cell lineage determination and cardiomyocyte proliferation. In addition, mechanisms by which NOTCH1 pathogenic variants lead to ventricular hypoplasia in hypoplastic left heart...

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PMID: 36583388
DOI: 10.1161/circresaha.122.321398

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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