Disruptive <i>NADSYN1</i> Variants Implicated in Congenital Vertebral Malformations

Disruptive <i>NADSYN1</i> Variants Implicated in Congenital Vertebral Malformations

Genetic perturbations in nicotinamide adenine dinucleotide de novo (NAD) synthesis pathway predispose individuals to congenital birth defects. The <i>NADSYN1</i> encodes the final enzyme in the de novo NAD synthesis pathway and, therefore, plays an important role in NAD metabolism and or...

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Bibliographic Details
Main Authors: Jiachen Lin, Lina Zhao, Sen Zhao, Shengjie Li, Zhengye Zhao, Zefu Chen, Zhifa Zheng, Jiashen Shao, Yuchen Niu, Xiaoxin Li, Jianguo Terry Zhang, Zhihong Wu, Nan Wu
Format: Article
Language:English
Published: MDPI AG 2021-10-01
Series:Genes
Subjects:
congenital vertebral malformation
exome sequencing
<i>NADSYN1</i> gene
congenital NAD Deficiency Disorder
Online Access:https://www.mdpi.com/2073-4425/12/10/1615

Internet

https://www.mdpi.com/2073-4425/12/10/1615

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