Varaico: Literature-Extracted Genetic Variants

Gene:RASA1
Variant:p.R709*
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RASA1

NM_002890.3:p.R709*

Associated Papers

Genotypes and phenotypes of capillary malformation-arteriovenous malformation: characterization and correlation analysis.

Chen Y et al.

International Journal of Dermatology, 2025

Mutation of key signaling regulators of cerebrovascular development in vein of Galen malformations.

Zhao S et al.

Nature Communications, 2023

Genetic dysregulation of an endothelial Ras signaling network in vein of Galen malformations.

Zhao S et al.

Biorxiv : the Preprint Server for Biology, 2023

Exome-wide Analysis of De Novo and Rare Genetic Variants in Patients With Brain Arteriovenous Malformation.

Wang K et al.

Neurology, 2022

A Pathogenic Homozygous Mutation in The Pleckstrin Homology Domain of RASA1 Is Responsible for Familial Tricuspid Atresia in An Iranian Consanguineous Family.

Nozari A et al.

Cell Journal, 2019

EphrinB2-EphB4-RASA1 Signaling in Human Cerebrovascular Development and Disease.

Zeng X et al.

Trends in Molecular Medicine, 2019

Mutations in Chromatin Modifier and Ephrin Signaling Genes in Vein of Galen Malformation.

Duran D et al.

Neuron, 2019

Human genetics and molecular mechanisms of vein of Galen malformation.

Duran D et al.

Journal of Neurosurgery. Pediatrics, 2018

Somatic second hit mutation of RASA1 in vascular endothelial cells in capillary malformation-arteriovenous malformation.

Lapinski PE et al.

European Journal of Medical Genetics, 2018

A spectrum of intracranial vascular high-flow arteriovenous shunts in RASA1 mutations.

Grillner P et al.

Child's Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery, 2016

p120RasGAP is a mediator of rho pathway activation and tumorigenicity in the DLD1 colorectal cancer cell line.

Organ SL et al.

Plos One, 2014

RASA1 mutations and associated phenotypes in 68 families with capillary malformation-arteriovenous malformation.

Revencu N et al.

Human Mutation, 2013

Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations.

Revencu N et al.

Human Mutation, 2008

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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."