Varaico: Literature-Extracted Genetic Variants

Gene:CTNND2
Variant:p.E1044K
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CTNND2

NM_001332.4:p.E1044K

Associated Papers

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

Corbett MA et al.

Epilepsia, 2023

Disruption of CTNND2, encoding delta-catenin, causes a penetrant attention deficit disorder and myopia.

Adegbola A et al.

Hgg Advances, 2020

Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3.

Florian RT et al.

Nature Communications, 2019

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

δ-Catenin (CTNND2) missense mutation in familial cortical myoclonic tremor and epilepsy.

van Rootselaar AF et al.

Neurology, 2017

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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."