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Article

Somatic and de novo Germline Variants of MEDs in Human Neural Tube Defects

4 Mar 2021

Abstract excerpt

Background Neural tube defects (NTDs) are among the most common and severe congenital defects in humans. Their genetic etiology is complex and remains poorly understood. The Mediator complex (MED) plays a vital role in neural tube development in animal models. However, no studies have yet examined the role of its human homolog in the etiology of NTDs. Methods In this study, 48 pairs of neural lesion site and...

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PMID: 33748132
DOI: 10.3389/fcell.2021.641831

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