Varaico: Literature-Extracted Genetic Variants

Gene:ALG13
Variant:p.E463G
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ALG13

NM_001099922.3:p.E463G

Associated Papers

ALG13-Related Epilepsy: Current Insights and Future Research Directions.

Gao P et al.

Neurochemical Research, 2024

Similarity of Phenotype in Three Male Patients With the c.320A>G Variant in ALG13: Possible Genotype-Phenotype Correlation.

Finnegan R et al.

Molecular Genetics & Genomic Medicine, 2024

Case Report: Identification of Two Variants of ALG13 in Families With or Without Seizure and Binocular Strabismus: Phenotypic Spectrum Analysis.

Cai T et al.

Frontiers in Genetics, 2022

ALG13 X-linked intellectual disability: New variants, glycosylation analysis, and expanded phenotypes.

Alsharhan H et al.

Journal of Inherited Metabolic Disease, 2021

ALG13-CDG in a male with seizures, normal cognitive development, and normal transferrin isoelectric focusing.

Gadomski TE et al.

American Journal of Medical Genetics. Part A, 2017

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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."