Varaico: Literature-Extracted Genetic Variants

Gene:EVC
Variant:p.R443*
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EVC

NM_153717.3:p.R443*

Associated Papers

Clinical and Molecular Features of Ciliopathies Diagnosed by Prenatal Exome Sequencing in Fetuses With Ultrasound Abnormalities.

Zhu X et al.

Prenatal Diagnosis, 2025

Ellis van Creveld syndrome in a Tunisian child revealed by an Eisenmenger syndrome.

Ajmi H et al.

International Journal of Pediatrics & Adolescent Medicine, 0

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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."