Varaico: Literature-Extracted Genetic Variants

Gene:ENG
Variant:p.T136delFs
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ENG

NM_001114753.3:p.T136delFs

Associated Papers

A Novel Splicing Mutation in the ACVRL1/ALK1 Gene as a Cause of HHT2.

Errasti Díaz S et al.

Journal of Clinical Medicine, 2022

Novel mutation in ENG gene causing Hereditary Hemorrhagic Telangiectasia in a Peruvian family.

Zevallos-Morales A et al.

Genetics and Molecular Biology, 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."