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Assessment of the InSiGHT Interpretation Criteria for the Clinical Classification of 24 MLH1 and MSH2 Gene Variants

Autor: Laura Papi, Bryony A. Thompson, Margherita Berardi, Alexandra Martins, Omar Soukarieh, Rossella Tricarico, Jukka Kantelinen, Maurizio Genuardi, Daniela Turchetti, Cristina Mareni, Maria De Angioletti, Greta Gorelli, Francesca Crucianelli, Mariann Kasela, Aurélie Drouet, Amanda B. Spurdle, Lucia Staderini, Pascaline Gaildrat, Valentina Ingrosso, Minna Nyström

Publikováno v: Human Mutation
Human Mutation, Wiley, 2017, 38 (1), pp.64-77. ⟨10.1002/humu.23117⟩
Tricarico, R, Kasela, M, Mareni, C, Thompson, B A, Drouet, A, Staderini, L, Gorelli, G, Crucianelli, F, Ingrosso, V, Kantelinen, J, Papi, L, Angioletti, M D, Berardi, M, Gaildrat, P, Soukarieh, O, Turchetti, D, Martins, A, Spurdle, A B, Nyström, M, Genuardi, M & Farrington, S 2017, ' Assessment of the InSiGHT Interpretation Criteria for the Clinical Classification of 24 MLH1 and MSH2 Gene Variants ', Human Mutation, vol. 38, no. 1 . https://doi.org/10.1002/humu.23117
Human mutation 38 (2017): 64–67. doi:10.1002/humu.23117
info:cnr-pdr/source/autori:Tricarico, Rossella; Kasela, Mariann; Mareni, Cristina; Thompson, Bryony A; Drouet, Aurelie; Staderini, Lucia; Gorelli, Greta; Crucianelli, Francesca; Ingrosso, Valentina; Kantelinen, Jukka; Papi, Laura; De Angioletti, Maria; Berardi, Margherita; Gaildrat, Pascaline; Soukarieh, Omar; Turchetti, Daniela; Martins, Alexandra; Spurdle, Amanda B; Nystrom, Minna; Genuardi, Maurizio/titolo:Assessment of the InSiGHT Interpretation Criteria for the Clinical Classification of 24 MLH1 and MSH2 Gene Variants./doi:10.1002%2Fhumu.23117/rivista:Human mutation/anno:2017/pagina_da:64/pagina_a:67/intervallo_pagine:64–67/volume:38

Pathogenicity assessment of DNA variants in disease genes to explain their clinical consequences is an integral component of diagnostic molecular testing. The International Society for Gastrointestinal Hereditary Tumors (InSiGHT) has developed specif

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b44005fa939110736d4e653248279c18
http://hdl.handle.net/10807/93629