Varaico: Literature-Extracted Genetic Variants

Gene:RASA1
Variant:p.M1insFs
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RASA1

NM_002890.3:p.M1insFs

Associated Papers

Genomic landscape of endometrial polyps.

Reinikka S et al.

Genome Medicine, 2025

41137179 (PubMed )
Supplement: 13073_2025_1556_MOESM1_ESM.xlsx › S1

Co-existence of 2 clinically significant variants causing disorders of somatic mosaicism.

Cao Y et al.

Genetics in Medicine Open, 2023

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

Zeng X et al.

Trends in Molecular Medicine, 2019

Maternal and fetal capillary malformation-arteriovenous malformation (CM-AVM) due to a novel RASA1 mutation presenting with prenatal non-immune hydrops fetalis.

Overcash RT et al.

American Journal of Medical Genetics. Part A, 2015

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."