Varaico: Literature-Extracted Genetic Variants

Gene:CHRNG
Variant:p.N117_V118insC
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CHRNG

NM_005199.5:p.N117_V118insC

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

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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."