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

Bryony Thompson Amanda Spurdle 1 John-Paul Plazzer Marc Greenblatt Kiwamu Akagi Fahd Al-Mulla 2 Bharati Bapat Inge Bernstein 3 Gabriel Capellà 4 Johan den Dunnen 5 Desiree Du Sart Aurélie Fabre 6 Michael Farrell Susan Farrington Ian Frayling 7 Thierry Frebourg 8, 9 David Goldgar 10 Christopher Heinen Elke Holinski-Feder 11 Maija Kohonen-Corish Kristina Lagerstedt Robinson Suet Yi Leung Alexandra Martins 9, 8 Pal Moller Monika Morak 12 Minna Nystrom 13 Paivi Peltomaki Marta Pineda Ming Qi 14 Rajkumar Ramesar Lene Juel Rasmussen 15 Brigitte Royer-Pokora Rodney Scott 16 Rolf Sijmons Sean Tavtigian 17 Carli Tops Thomas Weber 18 Juul Wijnen 19 Michael Woods 20 Finlay Macrae 21 Maurizio Genuardi 22
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https://hal-normandie-univ.archives-ouvertes.fr/hal-02336401
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Submitted on : Monday, October 28, 2019 - 6:06:41 PM
Last modification on : Monday, June 29, 2020 - 5:19:06 PM

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Bryony Thompson, Amanda Spurdle, John-Paul Plazzer, Marc Greenblatt, Kiwamu Akagi, et al.. Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database. Nature Genetics, Nature Publishing Group, 2014, 46 (2), pp.107-115. ⟨10.1038/ng.2854⟩. ⟨hal-02336401⟩

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