Varaico: Literature-Extracted Genetic Variants

Gene:RASA1
Variant:p.R711*
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RASA1

NM_002890.3:p.R711*

Associated Papers

Unraveling LINE-1 retrotransposition in head and neck squamous cell carcinoma.

Brea-Iglesias J et al.

Molecular Oncology, 2025

40465458 (PubMed )
Supplement: MOL2-19-3769-s001.xlsx › Table_S5

Comprehensive mapping elucidates high risk genotypes in primary metastatic breast cancer.

Berg T et al.

Neoplasia (new York, N.y.), 2025

40121945 (PubMed )
Supplement: mmc5.xlsx › Ark1

Novel postzygotic RASA1 mutation in a patient with Parkes Weber syndrome: A case report and literature review.

Pilz RA et al.

Clinical Case Reports, 2024

Prenatal Genetic Testing in the Era of Next Generation Sequencing: A One-Center Canadian Experience.

Almubarak A et al.

Genes, 2022

Impact of variation in practice in the prenatal reporting of variants of uncertain significance by commercial laboratories: Need for greater adherence to published guidelines.

Cornthwaite M et al.

Prenatal Diagnosis, 2022

Genomic characterization of lymphomas in patients with inborn errors of immunity.

Ye X et al.

Blood Advances, 2022

35687490 (PubMed )
Supplement: advancesADV2021006654-suppl4.xlsx › PL2

The many etiologies of nonimmune hydrops fetalis diagnosed by exome sequencing.

Wagner T et al.

Prenatal Diagnosis, 2022

Constitutional mosaicism in RASA1-related capillary malformation-arteriovenous malformation.

Gordo G et al.

Clinical Genetics, 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."