Varaico: Literature-Extracted Genetic Variants

Gene:ALG6
Variant:p.S170I
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ALG6

NM_013339.4:p.S170I

Associated Papers

ALG6-CDG in South Africa: Genotype-Phenotype Description of Five Novel Patients.

Dercksen M et al.

Jimd Reports, 2013

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

Haeuptle MA et al.

Human Mutation, 2009

Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Ryu GM et al.

Nucleic Acids Research, 2009

19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeI-

Metabolic mimics: the disorders of N-linked glycosylation.

Patterson MC

Seminars in Pediatric Neurology, 2005

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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."