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Functional classification of DDOST variants of uncertain clinical significance in congenital disorders of glycosylation

Congenital disorders of glycosylation (CDG) are rare genetic disorders with a spectrum of clinical manifestations caused by abnormal N-glycosylation of secreted and cell surface proteins. Over 130 genes are implicated and next generation sequencing further identifies potential disease drivers in aff...

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Detalles Bibliográficos
Autores principales:	Kas, Sjors M., Mundra, Piyushkumar A., Smith, Duncan L., Marais, Richard
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group UK 2023
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10582084/ https://www.ncbi.nlm.nih.gov/pubmed/37848450 http://dx.doi.org/10.1038/s41598-023-42178-y

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