Varaico: Literature-Extracted Genetic Variants

Gene:EBP
Variant:p.R147_F148delFs
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EBP

NM_006579.3:p.R147_F148delFs

Associated Papers

The role of the abnormalities in the distal pathway of cholesterol biosynthesis in the Conradi-Hünermann-Happle syndrome.

Cañueto J et al.

Biochimica Et Biophysica Acta, 2014

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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."