Varaico: Literature-Extracted Genetic Variants

Gene:ENG
Variant:p.I220fs
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ENG

NM_001114753.3:p.I220fs

Associated Papers

A theory for polymicrogyria and brain arteriovenous malformations in HHT.

Klostranec JM et al.

Neurology, 2019

Hereditary haemorrhagic telangiectasia: current views on genetics and mechanisms of disease.

Abdalla SA et al.

Journal of Medical Genetics, 2006

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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."