Varaico: Literature-Extracted Genetic Variants

Gene:IQSEC2
Variant:p.G771D
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IQSEC2

NM_001111125.3:p.G771D

Associated Papers

Preliminary Study on Clinical Characteristics and Pathogenesis of IQSEC2 Mutations Patients.

Ren Y et al.

Pharmacogenomics and Personalized Medicine, 2024

Molecular Insights into IQSEC2 Disease.

Levy NS et al.

International Journal of Molecular Sciences, 2023

IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.

Mignot C et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

Variants p.Q1236H and p.E1143G in mitochondrial DNA polymerase gamma POLG1 are not associated with increased risk for valproate-induced hepatotoxicity or pancreatic toxicity: A retrospective cohort study of patients with epilepsy.

Hynynen J et al.

Epilepsia, 2018

Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients.

de Kovel CG et al.

Molecular Genetics & Genomic Medicine, 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."