Varaico: Literature-Extracted Genetic Variants

Gene:EFHC1
Variant:p.R221C
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EFHC1

NM_018100.4:p.R221C

Associated Papers

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

Saleem T et al.

Biomed Research International, 2021

Modifier genes in SCN1A-related epilepsy syndromes.

de Lange IM et al.

Molecular Genetics & Genomic Medicine, 2020

EFHC1 mutation in Indian juvenile myoclonic epilepsy patient.

Thounaojam R et al.

Epilepsia Open, 2017

DNA variants in coding region of EFHC1: SNPs do not associate with juvenile myoclonic epilepsy.

Bai D et al.

Epilepsia, 2009

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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."