Varaico: Literature-Extracted Genetic Variants

Gene:ENG
Variant:p.K362insFs
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ENG

NM_001114753.3:p.K362insFs

Associated Papers

Clinical presentation and treatment paradigms of brain arteriovenous malformations in patients with hereditary hemorrhagic telangiectasia.

Gamboa NT et al.

Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia, 2018

HHT diagnosis by Mid-infrared spectroscopy and artificial neural network analysis.

Lux A et al.

Orphanet Journal of Rare Diseases, 2013

A case of delayed-onset hereditary hemorrhagic telangiectasia with a frameshift ENG mutation.

Akagawa H et al.

Neurology India, 0

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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."