Varaico: Literature-Extracted Genetic Variants

Gene:ENG
Variant:p.Y44_T45delFs
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ENG

NM_001114753.3:p.Y44_T45delFs

Associated Papers

Mutational and clinical spectrum of Japanese patients with hereditary hemorrhagic telangiectasia.

Kitayama K et al.

Bmc Medical Genomics, 2021

Functional and splicing defect analysis of 23 ACVRL1 mutations in a cohort of patients affected by Hereditary Hemorrhagic Telangiectasia.

Alaa El Din F et al.

Plos One, 2015

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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."