Varaico: Literature-Extracted Genetic Variants

Gene:CNTN1
Variant:p.S291insFs
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CNTN1

NM_001843.4:p.S291insFs

Associated Papers

Prenatal diagnosis and genetic analysis of fetal akinesia deformation sequence and multiple pterygium syndrome associated with neuromuscular junction disorders: a review.

Chen CP

Taiwanese Journal of Obstetrics & Gynecology, 2012

Fetal akinesia: review of the genetics of the neuromuscular causes.

Ravenscroft G et al.

Journal of Medical Genetics, 2011

Mutations in contactin-1, a neural adhesion and neuromuscular junction protein, cause a familial form of lethal congenital myopathy.

Compton AG 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."