Varaico: Literature-Extracted Genetic Variants

Gene:NOL3
Variant:p.E21Q
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NOL3

NM_001276309.3:p.E21Q

Associated Papers

Genetics of familial adult myoclonus epilepsy: From linkage studies to noncoding repeat expansions.

Corbett MA et al.

Epilepsia, 2023

Mutant Proteomics of Lung Adenocarcinomas Harboring Different EGFR Mutations.

Nishimura T et al.

Frontiers in Oncology, 2020

32983988 (PubMed )
Supplement: Data_Sheet_2.xlsx › AZ006

Familial Cortical Myoclonic Tremor and Epilepsy, an Enigmatic Disorder: From Phenotypes to Pathophysiology and Genetics. A Systematic Review.

van den Ende T et al.

Tremor and Other Hyperkinetic Movements (new York, N.y.), 2018

Rational search for genes in familial cortical myoclonic tremor with epilepsy, clues from recent advances.

Cen ZD et al.

Seizure, 2016

Episodic and electrical nervous system disorders caused by nonchannel genes.

Lee HY et al.

Annual Review of Physiology, 2015

Screening of mutations in NOL3 in a myoclonic syndromes series.

Macerollo A et al.

Journal of Neurology, 2014

Familial cortical myoclonus with a mutation in NOL3.

Russell JF et al.

Annals of Neurology, 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."