Varaico: Literature-Extracted Genetic Variants

Gene:CNTNAP2
Variant:p.R900W
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CNTNAP2

NM_014141.6:p.R900W

Associated Papers

Confirmation of Cause of Death Via Comprehensive Autopsy and Whole Exome Molecular Sequencing in People With Epilepsy and Sudden Unexpected Death.

Chahal CAA et al.

Journal of the American Heart Association, 2021

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

No evidence for association of autism with rare heterozygous point mutations in Contactin-Associated Protein-Like 2 (CNTNAP2), or in Other Contactin-Associated Proteins or Contactins.

Murdoch JD et al.

Plos Genetics, 2015

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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."