Varaico: Literature-Extracted Genetic Variants

Gene:ENG
Variant:p.M368T
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ENG

NM_001114753.3:p.M368T

Associated Papers

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

Kitayama K et al.

Bmc Medical Genomics, 2021

Hereditary hemorrhagic telangiectasia in Japanese patients.

Komiyama M et al.

Journal of Human Genetics, 2014

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

Lux A et al.

Orphanet Journal of Rare Diseases, 2013

Detection of a significant association between mutations in the ACVRL1 gene and hepatic involvement in German patients with hereditary haemorrhagic telangiectasia.

Brakensiek K et al.

Clinical Genetics, 2008

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."