Varaico: Literature-Extracted Genetic Variants

Gene:DYNC1H1
Variant:p.E561G
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DYNC1H1

NM_001376.5:p.E561G

Associated Papers

DYNC1H1 variant associated with epilepsy: Expanding the phenotypic spectrum.

Chung CT et al.

Epilepsy & Behavior Reports, 2023

De novo DYNC1H1 mutation causes infantile developmental and epileptic encephalopathy with brain malformations.

Su T et al.

Molecular Genetics & Genomic Medicine, 2022

Somatic mutations in cerebral cortical malformations.

Jamuar SS et al.

The New England Journal of Medicine, 2014

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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."