Varaico: Literature-Extracted Genetic Variants

Gene:ENG
Variant:p.G331Splc
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ENG

NM_001114753.3:p.G331Splc

Associated Papers

Current Status of Clinical Diagnosis and Genetic Analysis of Hereditary Hemorrhagic Telangiectasia in South Korea: Multicenter Case Series and a Systematic Review.

Kim D et al.

Neurointervention, 2019

Clinical features and mutations in the ENG, ACVRL1, and SMAD4 genes in Korean patients with hereditary hemorrhagic telangiectasia.

Lee ST et al.

Journal of Korean Medical Science, 2009

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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."