Varaico: Literature-Extracted Genetic Variants

Gene:CNTN2
Variant:p.E309K
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CNTN2

NM_005076.5:p.E309K

Associated Papers

Differential effects of human L1CAM mutations on complementing guidance and synaptic defects in Drosophila melanogaster.

Kudumala S et al.

Plos One, 2013

Pathogenic human L1-CAM mutations reduce the adhesion-dependent activation of EGFR.

Nagaraj K et al.

Human Molecular Genetics, 2009

Using model proteins to quantify the effects of pathogenic mutations in Ig-like proteins.

Randles LG et al.

The Journal of Biological Chemistry, 2006

Pathological missense mutations of neural cell adhesion molecule L1 affect neurite outgrowth and branching on an L1 substrate.

Cheng L et al.

Molecular and Cellular Neurosciences, 2004

Disease-associated mutations in L1 CAM interfere with ligand interactions and cell-surface expression.

De Angelis E et al.

Human Molecular Genetics, 2002

Neural cell recognition molecule L1: relating biological complexity to human disease mutations.

Kenwrick S et al.

Human Molecular Genetics, 2000

Pathological missense mutations of neural cell adhesion molecule L1 affect homophilic and heterophilic binding activities.

De Angelis E et al.

The Embo Journal, 1999

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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."