Varaico: Literature-Extracted Genetic Variants

Gene:ALG6
Variant:p.Y78F
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ALG6

NM_013339.4:p.Y78F

Associated Papers

Congenital disorders of glycosylation: an update on defects affecting the biosynthesis of dolichol-linked oligosaccharides.

Haeuptle MA et al.

Human Mutation, 2009

DHPLC analysis as a platform for molecular diagnosis of congenital disorders of glycosylation (CDG).

Schollen E et al.

European Journal of Human Genetics : Ejhg, 2002

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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."