Varaico: Literature-Extracted Genetic Variants

Gene:CNTNAP2
Variant:p.A1227T
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CNTNAP2

NM_014141.6:p.A1227T

Associated Papers

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

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."