Varaico: Literature-Extracted Genetic Variants

Gene:MGAT2
Variant:p.C339*
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MGAT2

NM_002408.4:p.C339*

Associated Papers

Metabolic mimics: the disorders of N-linked glycosylation.

Patterson MC

Seminars in Pediatric Neurology, 2005

Modeling human congenital disorder of glycosylation type IIa in the mouse: conservation of asparagine-linked glycan-dependent functions in mammalian physiology and insights into disease pathogenesis.

Wang Y et al.

Glycobiology, 2001

Congenital disorders of glycosylation IIa cause growth retardation, mental retardation, and facial dysmorphism.

Cormier-Daire V et al.

Journal of Medical Genetics, 2000

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."