Varaico: Literature-Extracted Genetic Variants

Gene:ENG
Variant:p.R197delFs
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ENG

NM_001114753.3:p.R197delFs

Associated Papers

Unusual Onset of Hereditary Hemorrhagic Telangiectasia Due to Somatic Mutational Mosaicism: Case Report and Review of the Literature.

Mirra V et al.

Children (basel, Switzerland), 2025

Mosaic ACVRL1 and ENG mutations in hereditary haemorrhagic telangiectasia patients.

Best DH et al.

Journal of Medical Genetics, 2011

Molecular diagnosis in hereditary hemorrhagic telangiectasia: findings in a series tested simultaneously by sequencing and deletion/duplication analysis.

McDonald J et al.

Clinical Genetics, 2011

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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."