Varaico: Literature-Extracted Genetic Variants

Gene:EVC2
Variant:p.E257*
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EVC2

NM_147127.5:p.E257*

Associated Papers

Truncation and microdeletion of EVC/EVC2 with missense mutation of EFCAB7 in Ellis-van Creveld syndrome.

Nguyen TQ et al.

Congenital Anomalies, 2016

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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."