Varaico: Literature-Extracted Genetic Variants

Gene:EBP
Variant:p.S37_V38insFs
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EBP

NM_006579.3:p.S37_V38insFs

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

Clinical, molecular and biochemical characterization of nine Spanish families with Conradi-Hünermann-Happle syndrome: new insights into X-linked dominant chondrodysplasia punctata with a comprehensive review of the literature.

Cañueto J et al.

The British Journal of Dermatology, 2012

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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."