Varaico: Literature-Extracted Genetic Variants

Gene:CNTNAP1
Variant:p.C323delFs
Back to variants list

CNTNAP1

NM_003632.3:p.C323delFs

Associated Papers

Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects.

Laquérriere A et al.

Human Molecular Genetics, 2014

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."