Varaico: Literature-Extracted Genetic Variants

Gene:ALG6
Variant:p.W56Splc
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ALG6

NM_013339.4:p.W56Splc

Associated Papers

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

Dercksen M et al.

Jimd Reports, 2013

Metabolic mimics: the disorders of N-linked glycosylation.

Patterson MC

Seminars in Pediatric Neurology, 2005

Congenital disorder of glycosylation Ic in patients of Indian origin.

Newell JW et al.

Molecular Genetics and Metabolism, 2003

Congenital disorders of glycosylation: a review.

Grunewald S et al.

Pediatric Research, 2002

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

Analysis of multiple mutations in the hALG6 gene in a patient with congenital disorder of glycosylation Ic.

Westphal V et al.

Molecular Genetics and Metabolism, 2000

Multi-allelic origin of congenital disorder of glycosylation (CDG)-Ic.

Imbach T et al.

Human 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."