Varaico: Literature-Extracted Genetic Variants

Gene:ALG13
Variant:p.Q547H
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ALG13

NM_001099922.3:p.Q547H

Associated Papers

Nationwide Study of Pediatric Drug-Resistant Epilepsy in Estonia: Lower Incidence and Insights into Etiology.

Lilles S et al.

Pediatric Reports, 2026

41563000 (PubMed )
Supplement: pediatrrep-18-00008-s001.zip › pediatrrep-3981509-supplementary.pdf

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

Gao P et al.

Neurochemical Research, 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 with Infantile Spasms in a Male Patient Due to a De Novo ALG13 Gene Mutation.

Galama WH et al.

Jimd Reports, 2018

Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies.

Møller RS et al.

Molecular Syndromology, 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."