Varaico: Literature-Extracted Genetic Variants

Gene:ENG
Variant:p.L162R
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ENG

NM_001114753.3:p.L162R

Associated Papers

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

Kitayama K et al.

Bmc Medical Genomics, 2021

34872578 (PubMed )
Supplement: 12920_2021_1139_MOESM1_ESM.xlsx › ENG

Structural Basis of the Human Endoglin-BMP9 Interaction: Insights into BMP Signaling and HHT1.

Saito T et al.

Cell Reports, 2017

Functional analysis of endoglin mutations from hereditary hemorrhagic telangiectasia type 1 patients reveals different mechanisms for endoglin loss of function.

Mallet C et al.

Human Molecular Genetics, 2015

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."