Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database.

Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database.

The clinical classification of hereditary sequence variants identified in disease-related genes directly affects clinical management of patients and their relatives. The International Society for Gastrointestinal Hereditary Tumours (InSiGHT) undertook a collaborative effort to develop, test and appl...

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Détails bibliographiques
Auteurs principaux: Thompson, B, Spurdle, AB, Plazzer, J, Greenblatt, MS, Akagi, K, Al-Mulla, F, Bapat, B, Bernstein, I, Capellá, G, den Dunnen, J, du Sart, D, Fabre, A, Farrell, M, Farrington, S, Frayling, I, Frebourg, T, Goldgar, D, Heinen, C, Holinski-Feder, E, Kohonen-Corish, M, Robinson, K, Leung, S, Martins, A, Moller, P, Morak, M
Format: Journal article
Langue:English
Publié: 2014

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