Varaico: Literature-Extracted Genetic Variants

Gene:RASA1
Variant:p.R427*
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RASA1

NM_002890.3:p.R427*

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

Immunogenomic analysis of human brain metastases reveals diverse immune landscapes across genetically distinct tumors.

Álvarez-Prado ÁF et al.

Cell Reports. Medicine, 2023

36652909 (PubMed )
Supplement: mmc4.xlsx › BrM_Val7

Comprehensive molecular and clinicopathological analysis of vascular malformations: A study of 319 cases.

Ten Broek RW et al.

Genes, Chromosomes & Cancer, 2019

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

Zeng X et al.

Trends in Molecular Medicine, 2019

Expanding the clinical and molecular findings in RASA1 capillary malformation-arteriovenous malformation.

Wooderchak-Donahue WL et al.

European Journal of Human Genetics : Ejhg, 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

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."