Varaico: Literature-Extracted Genetic Variants

Gene:NHLRC1
Variant:p.Q302P
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NHLRC1

NM_198586.3:p.Q302P

Associated Papers

TRIM32 and Malin in Neurological and Neuromuscular Rare Diseases.

Kumarasinghe L et al.

Cells, 2021

Nuclear Glycogenolysis Modulates Histone Acetylation in Human Non-Small Cell Lung Cancers.

Sun RC et al.

Cell Metabolism, 2019

Laforin is required for the functional activation of malin in endoplasmic reticulum stress resistance in neuronal cells.

Zeng L et al.

The Febs Journal, 2012

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

Insights into Lafora disease: malin is an E3 ubiquitin ligase that ubiquitinates and promotes the degradation of laforin.

Gentry MS et al.

Proceedings of the National Academy of Sciences of the United States of America, 2005

Mutations in NHLRC1 cause progressive myoclonus epilepsy.

Chan EM et al.

Nature Genetics, 2003

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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."