Associated Papers
Genetic Analysis of Patients with Chronic Thromboembolic Pulmonary Hypertension (CTEPH): A Single-Center Observational Study.
Bereczky Z et al.
Genes, 2025
Clinically observed RASA1 missense mutants exhibit diverse RasGAP protein behaviors.
Paul ME et al.
Biorxiv : the Preprint Server for Biology, 2025
41256670 (PubMed )
Supplement: media-1.pdf
Association of uncertain significance genetic variants with myocardial mechanics and morphometrics in patients with nonischemic dilated cardiomyopathy.
Mėlinytė-Ankudavičė K et al.
Bmc Cardiovascular Disorders, 2024
A common founding clone with TP53 and PTEN mutations gives rise to a concurrent germ cell tumor and acute megakaryoblastic leukemia.
Lu C et al.
Cold Spring Harbor Molecular Case Studies, 2016
27148581 (PubMed )
Supplement: supp_2.1.a000687_Supp_Table_2.xlsx › germline.missense
Mutations in RASA1 and GDF2 identified in patients with clinical features of hereditary hemorrhagic telangiectasia.
Hernandez F et al.
Human Genome Variation, 2015
Germline Mutations in RASA1 Are Not Found in Patients with Klippel-Trenaunay Syndrome or Capillary Malformation with Limb Overgrowth.
Revencu N et al.
Molecular Syndromology, 2013
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