Varaico: Literature-Extracted Genetic Variants

Gene:ENG
Variant:p.Q342*
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ENG

NM_001114753.3:p.Q342*

Associated Papers

Diagnostic and Prognostic Value of Angiogenic Status in Hereditary Hemorrhagic Telangiectasia.

Jaimes-Díaz S et al.

Diagnostics (basel, Switzerland), 2024

Current HHT genetic overview in Spain and its phenotypic correlation: data from RiHHTa registry.

Sánchez-Martínez R et al.

Orphanet Journal of Rare Diseases, 2020

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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."