Varaico: Literature-Extracted Genetic Variants

Gene:EVC2
Variant:p.T290_V291Splc
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EVC2

NM_147127.5:p.T290_V291Splc

Associated Papers

Novel large deletion involving EVC and EVC2 in Ellis-van Creveld syndrome.

Sato H et al.

Human Genome Variation, 2022

A severe form of Ellis-van Creveld syndrome caused by novel mutations in EVC2.

Ohashi I et al.

Human Genome Variation, 2019

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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."