Varaico: Literature-Extracted Genetic Variants

Gene:CNTNAP5
Variant:p.V1168I
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CNTNAP5

NM_130773.4:p.V1168I

Associated Papers

Chromosome 2q14.3 microdeletion encompassing CNTNAP5 gene in a patient carrying a complex chromosomal rearrangement.

Lengyel A et al.

Journal of Genetics, 2021

Characterization of a family with rare deletions in CNTNAP5 and DOCK4 suggests novel risk loci for autism and dyslexia.

Pagnamenta AT et al.

Biological Psychiatry, 2010

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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."