Varaico: Literature-Extracted Genetic Variants

Gene:EVC
Variant:p.N68delFs
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EVC

NM_153717.3:p.N68delFs

Associated Papers

Widening the mutation spectrum of EVC and EVC2: ectopic expression of Weyer variants in NIH 3T3 fibroblasts disrupts Hedgehog signaling.

Valencia M et al.

Human Mutation, 2009

Ellis-van Creveld syndrome and Weyers acrodental dysostosis are caused by cilia-mediated diminished response to hedgehog ligands.

Ruiz-Perez VL et al.

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2009

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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."