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Patients carrying Arg1809 substitution with no choroidal abnormalities: a further proof of a "Quasi-Incomplete" NF1 phenotype.

Claudia SantoroRosa BocciaClaudio IovinoGiulio PilusoSilverio PerrottaFrancesca Simonelli
Published in: European journal of human genetics : EJHG (2022)
Keyphrases
  • end stage renal disease
  • ejection fraction
  • newly diagnosed
  • signaling pathway
  • prognostic factors
  • oxidative stress
  • lps induced
  • cell proliferation
  • pi k akt
  • optic nerve