Varaico: Literature-Extracted Genetic Variants

Gene:ENG
Variant:p.R93_E94Fs
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ENG

NM_001114753.3:p.R93_E94Fs

Associated Papers

Diagnostic Difficulties in Hemorrhagic Hereditary Telangiectasia Presenting With Respiratory Failure and a De Novo Mutation in ENG Gene.

Gutiérrez-Macías A et al.

Archivos De Bronconeumologia, 2024

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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."