Estimation of probabilities in favour of pathogenicity for missense substitutions for use in clinical evaluation of mismatch repair gene variants

oleh: Thompson B, Goldgar D, Paterson C, Clendenning M, Walters R, Arnold S, Parsons M, Walsh M, Hopper J, Jenkins M, Greenblatt M, Buchanan D, Young J, Tavtigian S, Spurdle A