Varaico: Literature-Extracted Genetic Variants

Gene:ENG
Variant:p.Y120_N121Splc
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ENG

NM_001114753.3:p.Y120_N121Splc

Associated Papers

Mutational and clinical spectrum of Japanese patients with hereditary hemorrhagic telangiectasia.

Kitayama K et al.

Bmc Medical Genomics, 2021

Exome sequencing identifies a novel intronic mutation in ENG that causes recurrence of pulmonary arteriovenous malformations.

Saji N et al.

Journal of the Neurological Sciences, 2015

Hereditary hemorrhagic telangiectasia in Japanese patients.

Komiyama M et al.

Journal of Human Genetics, 2014

From developmental disorder to heritable cancer: it's all in the BMP/TGF-beta family.

Waite KA et al.

Nature Reviews. Genetics, 2003

Hereditary hemorrhagic telangiectasia: an overview of diagnosis and management in the molecular era for clinicians.

Bayrak-Toydemir P et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 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."