Varaico: Literature-Extracted Genetic Variants

Gene:ENG
Variant:p.P37L
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ENG

NM_001114753.3:p.P37L

Associated Papers

Characterization of a family mutation in the 5' untranslated region of the endoglin gene causative of hereditary hemorrhagic telangiectasia.

Ruiz-Llorente L et al.

Journal of Human Genetics, 2019

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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."