Varaico: Literature-Extracted Genetic Variants

Gene:ACVRL1
Variant:p.R484G
Back to variants list

ACVRL1

NM_000020.3:p.R484G

Associated Papers

Pulmonary Hypertension and Hereditary Hemorrhagic Telangiectasia Related to an ACVRL1 Mutation.

Yokokawa T et al.

Internal Medicine (tokyo, Japan), 2020

Identification of rare sequence variation underlying heritable pulmonary arterial hypertension.

Gräf S et al.

Nature Communications, 2018

29650961 (PubMed )
Supplement: 41467_2018_3672_MOESM2_ESM.xlsx › Suppl._Dataset_2

High Frequency of Pulmonary Hypertension-Causing Gene Mutation in Chinese Patients with Chronic Thromboembolic Pulmonary Hypertension.

Xi Q et al.

Plos One, 2016

Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic Defects.

Machado RD et al.

Human Mutation, 2015

Somatic mosaicism in ACVRL1 with transmission to several offspring affected with severe pulmonary arterial hypertension.

Jones G et al.

American Journal of Medical Genetics. Part A, 2014

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."