Varaico: Literature-Extracted Genetic Variants

Gene:CNTNAP2
Variant:p.N418D
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CNTNAP2

NM_014141.6:p.N418D

Associated Papers

Mouse Cntnap2 and Human CNTNAP2 ASD Alleles Cell Autonomously Regulate PV+ Cortical Interneurons.

Vogt D et al.

Cerebral Cortex (new York, N.y. : 1991), 2018

Contactin-associated protein-like 2, a protein of the neurexin family involved in several human diseases.

Saint-Martin M et al.

The European Journal of Neuroscience, 2018

Genetic variants in autism-related CNTNAP2 impair axonal growth of cortical neurons.

Canali G et al.

Human Molecular Genetics, 2018

Molecular Architecture of Contactin-associated Protein-like 2 (CNTNAP2) and Its Interaction with Contactin 2 (CNTN2).

Lu Z et al.

The Journal of Biological Chemistry, 2016

Shining a light on CNTNAP2: complex functions to complex disorders.

Rodenas-Cuadrado P et al.

European Journal of Human Genetics : Ejhg, 2014

Inherited genetic variants in autism-related CNTNAP2 show perturbed trafficking and ATF6 activation.

Falivelli G et al.

Human Molecular Genetics, 2012

Molecular cytogenetic analysis and resequencing of contactin associated protein-like 2 in autism spectrum disorders.

Bakkaloglu B et al.

American Journal of Human Genetics, 2008

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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."