Varaico: Literature-Extracted Genetic Variants

Gene:RASA1
Variant:p.L159fs
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RASA1

NM_002890.3:p.L159fs

Associated Papers

RAS Pathway Mutations and Therapeutics in Vascular Anomalies.

Alharbi S et al.

Pediatric Blood & Cancer, 2025

Genomic profiling informs diagnoses and treatment in vascular anomalies.

Li D et al.

Nature Medicine, 2023

Evaluating variants classified as pathogenic in ClinVar in the DDD Study.

Wright CF et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

33149276 (PubMed )
Supplement: 41436_2020_1021_MOESM1_ESM.xlsx › SuppTable2_NotReported

ARAF recurrent mutation causes central conducting lymphatic anomaly treatable with a MEK inhibitor.

Li D et al.

Nature Medicine, 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

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

Revencu N et al.

Human Mutation, 2013

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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."