Varaico: Literature-Extracted Genetic Variants

Gene:EVC2
Variant:p.I304insFs
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EVC2

NM_147127.5:p.I304insFs

Associated Papers

A novel missense mutation in the EVC gene underlies Ellis-van Creveld syndrome in a Pakistani family.

Umm-E-Kalsoom et al.

Pediatrics International : Official Journal of the Japan Pediatric Society, 2010

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

Tompson SW et al.

Human Genetics, 2007

A novel heterozygous deletion in the EVC2 gene causes Weyers acrofacial dysostosis.

Ye X et al.

Human Genetics, 2006

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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."