Varaico: Literature-Extracted Genetic Variants

Gene:ALG13
Variant:p.V8A
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ALG13

NM_001099922.3:p.V8A

Associated Papers

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

Gao P et al.

Neurochemical Research, 2024

The trap of genetic tag: The importance of pathogenicity prediction tools in the correct interpretation of variants of uncertain significance in the era of high-throughput genome sequencing.

Pellegrino F

Clinical Case Reports, 2023

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

The phenotypic spectrum of X-linked, infantile onset ALG13-related developmental and epileptic encephalopathy.

Datta AN et al.

Epilepsia, 2021

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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."