Varaico: Literature-Extracted Genetic Variants

Gene:ENG
Variant:p.P131fs
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ENG

NM_001114753.3:p.P131fs

Associated Papers

Genetic analysis of a family with hereditary hemorrhagic telangiectasia caused by a novel frameshift deletion mutation of the endoglin (ENG) gene.

Wu J et al.

Medicina Clinica, 2024

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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."