Varaico: Literature-Extracted Genetic Variants

Gene:ENG
Variant:p.S103_S104del1
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ENG

NM_001114753.3:p.S103_S104del1

Associated Papers

Distribution of Cerebrovascular Phenotypes According to Variants of the ENG and ACVRL1 Genes in Subjects with Hereditary Hemorrhagic Telangiectasia.

Gaetani E et al.

Journal of Clinical Medicine, 2022

Endoscopic evaluation of gastrointestinal tract in patients with hereditary hemorrhagic telangiectasia and correlation with their genotypes.

Canzonieri C et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2014

DHPLC-based mutation analysis of ENG and ALK-1 genes in HHT Italian population.

Lenato GM et al.

Human Mutation, 2006

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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."