Varaico: Literature-Extracted Genetic Variants

Gene:NHLRC1
Variant:p.I198N
Back to variants list

NHLRC1

NM_198586.3:p.I198N

Associated Papers

Axonal polyneuropathy in Lafora disease with a newly identified EPM2A mutation: a case report and review of literature.

Razmeh S et al.

Journal of Neurology, 2025

Genetics of Lafora progressive myoclonic epilepsy: current perspectives.

Kecmanović M et al.

The Application of Clinical Genetics, 2016

Lafora progressive myoclonus epilepsy: a meta-analysis of reported mutations in the first decade following the discovery of the EPM2A and NHLRC1 genes.

Singh S et al.

Human Mutation, 2009

Novel NHLRC1 mutations and genotype-phenotype correlations in patients with Lafora's progressive myoclonic epilepsy.

Singh S et al.

Journal of Medical Genetics, 2006

Lafora disease due to EPM2B mutations: a clinical and genetic study.

Gómez-Abad C et al.

Neurology, 2005

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."