Varaico: Literature-Extracted Genetic Variants

Gene:NFASC
Variant:p.E309K
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NFASC

NM_001005388.3: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

Homophilic adhesion mechanism of neurofascin, a member of the L1 family of neural cell adhesion molecules.

Liu H et al.

The Journal of Biological Chemistry, 2011

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

Nagaraj K et al.

Human Molecular Genetics, 2009

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

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

Kenwrick S et al.

Human Molecular Genetics, 2000

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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."