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Extracranial Vascular Anomalies Driven by RAS/MAPK Variants: Spectrum and Genotype-Phenotype Correlations.

Vanessa Franziska SchmidtFriedrich G KappConstantin GoldannLinda HuthmannBeatrix CucuruzRichard BrillVeronika VielsmeierCaroline T SeebauerArmin-Johannes MichelMax SeidenstickerWibke UllerJakob B W WeißAlena SintBeate HäberleJulia KüppersAlexandra WagnerJohanna CordesAnnegret HolmDenny SchanzeJens RickeMelanie A KimmWalter A WohlgemuthMartin ZenkerMoritz Wildgrubernull null
Published in: Journal of the American Heart Association (2024)
variants were associated with more aggressive phenotypes, generating preliminary data and hypothesis for future larger studies.
Keyphrases
  • copy number
  • signaling pathway
  • electronic health record
  • internal carotid artery
  • oxidative stress
  • big data
  • case control
  • gene expression
  • genome wide
  • dna methylation
  • artificial intelligence