Varaico: Literature-Extracted Genetic Variants

Gene:NHLRC1
Variant:p.L279P
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NHLRC1

NM_198586.3:p.L279P

Associated Papers

TRIM32 and Malin in Neurological and Neuromuscular Rare Diseases.

Kumarasinghe L et al.

Cells, 2021

Neuronatin-mediated aberrant calcium signaling and endoplasmic reticulum stress underlie neuropathology in Lafora disease.

Sharma J et al.

The Journal of Biological Chemistry, 2013

Sequestration of chaperones and proteasome into Lafora bodies and proteasomal dysfunction induced by Lafora disease-associated mutations of malin.

Rao SN et al.

Human Molecular Genetics, 2010

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

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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."