Now showing items 1-2 of 2

    • 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) ...
    • Quantifying prediction of pathogenicity for within-codon concordance (PM5) using 7541 functional classifications of BRCA1 and MSH2 missense variants 

      Loong, L.; Cubuk, C.; Choi, S.; Allen, S.; Torr, B.; Garrett, A.; Loveday, C.; Durkie, M.; Callaway, A.; Burghel, G. J.; Drummond, J.; Robinson, R.; Berry, I. R.; Wallace, A.; Eccles, D. M.; Tischkowitz, M.; Ellard, S.; Ware, J. S.; Hanson, H.; Turnbull, C. (Nature, 2021-11-18)
      PURPOSE: Conditions and thresholds applied for evidence weighting of within-codon concordance (PM5) for pathogenicity vary widely between laboratories and expert groups. Because of the sparseness of available clinical ...