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Penetrance

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  • Exome sequencing identifies a significant variant in methionyl-tRNA synthetase (MARS) in a family with late-onset CMT2  Academic Article
  • Genetic screening for low-penetrance variants in protein-coding genes  Academic Article
  • Glaucoma spectrum and age-related prevalence of individuals with FOXC1 and PITX2 variants  Academic Article
  • Hemojuvelin (hjv) mutations in persons of european, african-american and asian ancestry with adult onset haemochromatosis  Academic Article
  • Iron-overload-related disease in HFE hereditary hemochromatosis  Academic Article
  • Mir-290-295 deficiency in mice results in partially penetrant embryonic lethality and germ cell defects  Academic Article
  • Penetrance of hemochromatosis  Academic Article
  • Screening for hemochromatosis by measuring ferritin levels: A more effective approach  Academic Article
  • The penetrance of hereditary hemochromatosis  Academic Article

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