Varaico: Literature-Extracted Genetic Variants

Gene:EFHC1
Variant:p.R153Q
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EFHC1

NM_018100.4:p.R153Q

Associated Papers

Mutational Analysis of Myoclonin1 Gene in Pakistani Juvenile Myoclonic Epilepsy Patients.

Saleem T et al.

Biomed Research International, 2021

EFHC1 mutation in Indian juvenile myoclonic epilepsy patient.

Thounaojam R et al.

Epilepsia Open, 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

Novel Myoclonin1/EFHC1 mutations in Mexican patients with juvenile myoclonic epilepsy.

Jara-Prado A et al.

Seizure, 2012

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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."