Varaico: Literature-Extracted Genetic Variants

Gene:ALG2
Variant:p.G347delFs
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ALG2

NM_033087.4:p.G347delFs

Associated Papers

Novel pathogenic ALG2 mutation causing congenital myasthenic syndrome: A case report.

Ehrstedt C et al.

Neuromuscular Disorders : Nmd, 2022

A patient-based medaka alg2 mutant as a model for hypo-N-glycosylation.

Gücüm S et al.

Development (cambridge, England), 2021

Congenital myasthenic syndromes due to mutations in ALG2 and ALG14.

Cossins J et al.

Brain : a Journal of Neurology, 2013

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

Haeuptle MA et al.

Human Mutation, 2009

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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."