Varaico: Literature-Extracted Genetic Variants

Gene:EBP
Variant:p.C67R
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EBP

NM_006579.3:p.C67R

Associated Papers

TM6SF2 and MAC30, new enzyme homologs in sterol metabolism and common metabolic disease.

Sanchez-Pulido L et al.

Frontiers in Genetics, 2014

Evidence of postzygotic mosaicism in a transmitted form of Conradi-Hunermann-Happle syndrome associated with a novel EBP mutation.

Morice-Picard F et al.

Archives of Dermatology, 2011

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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."