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A novel germline mutation in GP1BA gene N-terminal domain in monoallelic Bernard-Soulier syndrome by Jakub Trizuljak, Kateřina Staňo Kozubík, Lenka Radová, Michaela Pešová, Karol Pál, Kamila Réblová, Olga Stehlíková, Petr Smejkal, Jiřina Zavřelová, Milan Pacejka, Jiří Mayer, Šárka Pospíšilová, Michael Doubek
Published 2018-11-01
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Impact of thrombocytopenia-associated c.-118C>T and c.-140C>G ANKRD26 5’UTR variants in three-generational pedigree by Jakub Trizuljak, Paulína Likavcová, Kateřina Staňo Kozubík, Zuzana Vrzalová, Jakub Hynšt, Tereza Deissová, Jiří Štika, Lenka Radová, Marie Prudková, Jana Vaculová, Ivona Blaháková, Petr Smejkal, Jan Kamelander, Šárka Pospíšilová, Michael Doubek
Published 2024-12-01
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