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    • Natural history of NF1 c.2970_2972del p.(Met992del): confirmation of a low risk of complications in a longitudinal study 

      Forde, C.; Burkitt-Wright, E.; Turnpenny, P. D.; Haan, E.; Ealing, J.; Mansour, S.; Holder, M.; Lahiri, N.; Dixit, A.; Procter, A.; Pacot, L.; Vidaud, D.; Capri, Y.; Gerard, M.; Dollfus, H.; Schaefer, E.; Quelin, C.; Sigaudy, S.; Busa, T.; Vera, G.; Damaj, L.; Messiaen, L.; Stevenson, D. A.; Davies, P.; Palmer-Smith, S.; Callaway, A.; Wolkenstein, P.; Pasmant, E.; Upadhyaya, M. (Nature, 2021-12-13)
      Individuals with the three base pair deletion NM_000267.3(NF1):c.2970_2972del p.(Met992del) have been recognised to present with a milder neurofibromatosis type 1 (NF1) phenotype characterised by café-au-lait macules (CALs) ...