Varaico: Literature-Extracted Genetic Variants

Gene:RASA1
Variant:p.R679*
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RASA1

NM_002890.3:p.R679*

Associated Papers

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

High-depth next-generation sequencing panel testing in the evaluation of arteriovenous malformations.

Hernandez PV et al.

American Journal of Medical Genetics. Part A, 2023

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

Cao Y et al.

Genetics in Medicine Open, 2023

Integrated molecular and pharmacological characterization of patient-derived xenografts from bladder and ureteral cancers identifies new potential therapies.

Lang H et al.

Frontiers in Oncology, 2022

36033544 (PubMed )
Supplement: Table_4.xlsx › Variants

RASA1 mosaic mutations in patients with capillary malformation-arteriovenous malformation.

Revencu N et al.

Journal of Medical Genetics, 2020

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

Zeng X et al.

Trends in Molecular Medicine, 2019

RASA-1 somatic "second hit" mutation in capillary malformation-arteriovenous malformation.

Cai R et al.

The Journal of Dermatology, 2018

Prenatal diagnosis of cerebral and extracerebral high-flow lesions revealing familial capillary malformation-arteriovenous malformation (CM-AVM) syndrome.

Lacalm A et al.

Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology, 2018

The chronological sequence of somatic mutations in early gastric carcinogenesis inferred from multiregion sequencing of gastric adenomas.

Lim CH et al.

Oncotarget, 2016

27175599 (PubMed )
Supplement: oncotarget-07-39758-s003.xlsx › TableS2

Comparative sequencing analysis reveals high genomic concordance between matched primary and metastatic colorectal cancer lesions.

Brannon AR et al.

Genome Biology, 2014

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."