Associated Papers
Clinically observed RASA1 missense mutants exhibit diverse RasGAP protein behaviors.
Paul ME et al.
Biorxiv : the Preprint Server for Biology, 2025
Whole-exome sequencing analyses in a Saudi Ischemic Stroke Cohort reveal association signals, and shows polygenic risk scores are related to Modified Rankin Scale Risk.
Alkhamis FA et al.
Functional & Integrative Genomics, 2023
36973604 (PubMed )
Supplement: 10142_2023_1039_MOESM1_ESM.xlsx › all_variants
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.
Stranneheim H et al.
Genome Medicine, 2021
33726816 (PubMed )
Supplement: 13073_2021_855_MOESM3_ESM.xlsx › Reported_genes_and_variants
KIAA1109 gene mutation in surviving patients with Alkuraya-Kučinskas syndrome: a review of literature.
Kumar K et al.
Bmc Medical Genetics, 2020
32590954 (PubMed )
Supplement: 12881_2020_1074_MOESM1_ESM.xlsx › Sheet1
Genomic Analysis Reveals Novel Specific Metastatic Mutations in Chinese Clear Cell Renal Cell Carcinoma.
Meng H et al.
Biomed Research International, 2020
33062672 (PubMed )
Supplement: 2495157.f1.xlsx › Table_S5
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
Genomic and Transcriptomic Characterization Links Cell Lines with Aggressive Head and Neck Cancers.
Cheng H et al.
Cell Reports, 2018
30380422 (PubMed )
Supplement: NIHMS1511993-supplement-6.xlsx › Table_S5
Expanding the clinical and molecular findings in RASA1 capillary malformation-arteriovenous malformation.
Wooderchak-Donahue WL et al.
European Journal of Human Genetics : Ejhg, 2018
Variant discovery in patients with Mendelian vascular anomalies by next-generation sequencing and their use in patient clinical management.
Mattassi R et al.
Journal of Vascular Surgery, 2018
Mutations in RASA1 and GDF2 identified in patients with clinical features of hereditary hemorrhagic telangiectasia.
Hernandez F et al.
Human Genome Variation, 2015
RASA1 mutations and associated phenotypes in 68 families with capillary malformation-arteriovenous malformation.
Revencu N et al.
Human Mutation, 2013
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