Varaico: Literature-Extracted Genetic Variants

Gene:CNTN2
Variant:p.W168fs
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CNTN2

NM_005076.5:p.W168fs

Associated Papers

Gene-gene interaction network analysis indicates CNTN2 is a candidate gene for idiopathic generalized epilepsy.

Lin ZJ et al.

Neurogenetics, 2024

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

Corbett MA et al.

Epilepsia, 2023

Case Report: A Case of Epileptic Disorder Associated With a Novel CNTN2 Frameshift Variant in Homozygosity due to Maternal Uniparental Disomy.

Chen W et al.

Frontiers in Genetics, 2021

Neurogenomics in Africa: Perspectives, progress, possibilities and priorities.

Akinyemi RO et al.

Journal of the Neurological Sciences, 2016

Autosomal recessive cortical myoclonic tremor and epilepsy: association with a mutation in the potassium channel associated gene CNTN2.

Stogmann E et al.

Brain : a Journal of Neurology, 2013

[Fut1 gene mutation for para-bombay blood type individual in Fujian Province of China].

Huang HB et al.

Zhongguo Shi Yan Xue Ye Xue Za Zhi, 2010

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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."