Varaico: Literature-Extracted Genetic Variants

Gene:EVC2
Variant:p.A1045V
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EVC2

NM_147127.5:p.A1045V

Associated Papers

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

Analysis of Ellis van Creveld syndrome gene products: implications for cardiovascular development and disease.

Sund KL et al.

Human Molecular Genetics, 2009

Sequencing EVC and EVC2 identifies mutations in two-thirds of Ellis-van Creveld syndrome patients.

Tompson SW et al.

Human Genetics, 2007

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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."