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pro vyhledávání: '"Juliana Côrtes Freitas"'
Autor:
Karin Alvarez, Walter Hernán Pavicic, Taisa Manuela Bonfim Machado-Lopes, Tamara Alejandra Piñero, Maria Betânia Pereira Toralles, Francisco López-Köstner, Kiyoko Abe Sandes, Benedito Mauro Rossi, Carlos A. Vaccaro, Marion Rolain, Juliana Côrtes Freitas, Joanna Goes Castro Meira, Alexandra Martins, Thais Bomfim, Ivana Nascimento, Dirce Maria Carraro, Mev Dominguez-Valentin, Omar Soukarieh, Pål Møller, Giovana Tardin Torrezan, Samuel Aguiar Junior
Publikováno v:
Familial Cancer. 19:323-336
Germline pathogenic variants in the DNA mismatch repair genes (MMR): MLH1, MSH2, MSH6, and PMS2, are causative of Lynch syndrome (LS). However, many of the variants mapping outside the invariant splice site positions (IVS ± 1, IVS ± 2) are classifi