Varaico: Literature-Extracted Genetic Variants

Gene:ENG
Variant:p.C363R
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ENG

NM_001114753.3:p.C363R

Associated Papers

Endoglin mutants retained in the endoplasmic reticulum exacerbate loss of function in hereditary hemorrhagic telangiectasia type 1 (HHT1) by exerting dominant negative effects on the wild type allele.

Gariballa N et al.

Traffic (copenhagen, Denmark), 2024

Increased protein-coding mutations in the mitochondrial genome of African American women with preeclampsia.

Ding D et al.

Reproductive Sciences (thousand Oaks, Calif.), 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."