Varaico: Literature-Extracted Genetic Variants

Gene:EFHC1
Variant:p.Y485H
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EFHC1

NM_018100.4:p.Y485H

Associated Papers

'Pseudo-ataxic' negative myoclonic status in developmental and epileptic encephalopathy with spike-wave activation in sleep: Utility of ACTH therapy beyond west syndrome.

K Y M et al.

Epileptic Disorders : International Epilepsy Journal With Videotape, 2026

Microtubule-associated defects caused by EFHC1 mutations in juvenile myoclonic epilepsy.

Raju PK et al.

Human Mutation, 2017

EFHC1 variants in juvenile myoclonic epilepsy: reanalysis according to NHGRI and ACMG guidelines for assigning disease causality.

Bailey JN et al.

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