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A Deep Intronic Recurrent CHEK2 Variant C.1009-118_1009-87delinsc Affects Pre-Mrna Splicing and Contributes to Hereditary Breast Cancer Predisposition

Petra Zemankova,Marta Cerna,Klara Horackova,Corinna Ernst,Jana Soukupova,Marianna Borecka,Britta Bluemcke,Leona Cerna,Monika Cerna,Vaclava Curtisova,Tatana Dolezalova,Petra Duskova,Lenka Dvorakova,Lenka Foretova,Ondrej Havranek,Jan Hauke,Eric Hahnen, Miloslava Hodulova,Milena Hovhannisyan,Lucie Hruskova,Marketa Janatova,Maria Janikova,Sandra Jelinkova,Pavel Just,Marcela Kosarova,Monika Koudova,Vera Krutilkova,Eva Machackova,Katerina Matejkova,Renata Michalovska, Adela Misove,Petr Nehasil,Barbora Nemcova,Jan Novotny,Ales Panczak, Pavel Pesek,Ondrej Scheinost,Drahomira Springer,Barbora Stastna,Viktor Stranecky,Ivan Subrt,Spiros Tavandzis, Eva Tureckova,Kamila Vesela,Zdenka Vlckova,Michal Vocka,Barbara Wappenschmidt,Tomas Zima,Zdenek Kleibl,Petra Kleiblova

BREAST（2024）

Cited 2|Views32
Key words
Deep intronic CHEK2 variant,Breast cancer,NGS,RNA analysis,Genetic testing
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