Varaico: Literature-Extracted Genetic Variants

Gene:EVC
Variant:p.R622*
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EVC

NM_153717.3:p.R622*

Associated Papers

Common atrium/atrioventricular canal defect and postaxial polydactyly: A mild clinical subtype of Ellis-van Creveld syndrome caused by hypomorphic mutations in the EVC gene.

Piceci-Sparascio F et al.

Human Mutation, 2020

Two Adult Patients with Ellis-van Creveld Syndrome Extending the Clinical Spectrum.

Rudnik-Schöneborn S et al.

Molecular Syndromology, 2011

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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."