Varaico: Literature-Extracted Genetic Variants

Gene:ENG
Variant:p.R333W
Back to variants list

ENG

NM_001114753.3:p.R333W

Associated Papers

Clinical Phenotypes of a Pediatric Cohort with GDF2-Related Hereditary Hemorrhagic Telangiectasia.

Oliver O et al.

Journal of Clinical Medicine, 2025

Identification and validation of a novel pathogenic variant in GDF2 (BMP9) responsible for hereditary hemorrhagic telangiectasia and pulmonary arteriovenous malformations.

Balachandar S et al.

American Journal of Medical Genetics. Part A, 2022

Current Status of Clinical and Genetic Screening of Hereditary Hemorrhagic Telangiectasia Families in Hungary.

Major T et al.

Journal of Clinical Medicine, 2021

Mutational and phenotypic characterization of hereditary hemorrhagic telangiectasia.

Shovlin CL et al.

Blood, 2020

Emerging roles of BMP9 and BMP10 in hereditary hemorrhagic telangiectasia.

Tillet E et al.

Frontiers in Genetics, 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."