Functional prediction of the potential NGLY1 mutations associated with rare disease CDG

Genetic diseases are currently diagnosed by functional mutations. However, only some mutations are associated with disease. It is necessary to establish a quick prediction model for clinical screening. Pathogenic mutations in NGLY1 cause a rare autosomal recessive disease known as congenital disorde...

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Bibliografiske detaljer

Principais autores:	Shuying Yuan, Yanwen Chen, Lin Zou, Xinrong Lu, Ruijie Liu, Shaoxing Zhang, Yuxin Zhang, Cuiying Chen, Dongqing Cheng, Li Chen, Guiqin Sun
Format:	Artigo
Sprog:	Inglês
Udgivet:	Elsevier 2024-04-01
Serier:	Heliyon
Fag:	Deglycosylation Enzymatic activity Gain of function mutation PNGase Rare disease
Online adgang:	http://www.sciencedirect.com/science/article/pii/S2405844024048187
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