Varaico: Literature-Extracted Genetic Variants

Gene:EVC
Variant:p.M234_M235Splc
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EVC

NM_153717.3:p.M234_M235Splc

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

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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."