Varaico: Literature-Extracted Genetic Variants

Gene:ALG6
Variant:p.G227Splc
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ALG6

NM_013339.4:p.G227Splc

Associated Papers

KidneyNetwork: using kidney-derived gene expression data to predict and prioritize novel genes involved in kidney disease.

Boulogne F et al.

European Journal of Human Genetics : Ejhg, 2023

ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies.

Morava E et al.

Journal of Inherited Metabolic Disease, 2016

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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."