Varaico: Literature-Extracted Genetic Variants

Gene:EVC
Variant:p.N313_M314Splc
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EVC

NM_153717.3:p.N313_M314Splc

Associated Papers

Ellis-van Creveld syndrome resulting from segmental uniparental disomy of chromosome 4.

Tompson SW et al.

Journal of Medical Genetics, 2001

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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."