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Assembly defects of human tRNA splicing endonuclease contribute to impaired pre-tRNA processing in pontocerebellar hypoplasia2021 Nature Communications article Biochemistry, Genetics and Molecular Biology RNA and protein synthesis mechanisms Open access
Samoil Sekulovski, Pascal Devant, Silvia Panizza, Tasos Gogakos, Anda Pitiriciu, Katharina Heitmeier, +8 more
39citations -
Assembly defects of the human tRNA splicing endonuclease contribute to impaired pre-tRNA processing in pontocerebellar hypoplasia2020 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology RNA and protein synthesis mechanisms Open access
Samoil Sekulovski, Pascal Devant, Silvia Panizza, Tasos Gogakos, Anda Pitiriciu, Katharina Heitmeier, +7 more
7citations -
Systematic Minigene-Based Splicing Analysis and Tentative Clinical Classification of 52 CHEK2 Splice-Site Variants2023 Clinical Chemistry article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Lara Sanoguera‐Miralles, Alberto Valenzuela‐Palomo, Elena Bueno Martínez, Ada Esteban‐Sánchez, Víctor Lorca, Inés Llinares‐Burguet, +8 more
14citations
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