Varaico: Literature-Extracted Genetic Variants

Gene:EVC
Variant:p.L244_S253del0
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EVC

NM_153717.3:p.L244_S253del0

Associated Papers

An intrafamilial phenotypic variability in Ellis-Van Creveld syndrome due to a novel 27 bps deletion mutation.

Zaka A et al.

American Journal of Medical Genetics. Part A, 2021

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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."