Splicing annotation of endometrial cancer GWAS risk loci reveals potentially causal variants and supports a role for NF1 and SKAP1 as susceptibility genes by Daffodil M. Canson, Tracy A. O’Mara, Amanda B. Spurdle, Dylan M. Glubb

Subjects: Get full text

A novel BRCA1 splicing variant detected in an early onset triple-negative breast cancer patient additionally carrying a pathogenic variant in ATM: A case report by Mara Colombo, Patrizia Mondini, Elisa Minenza, Claudia Foglia, Annamaria Mosconi, Carmen Molica, Lorenza Pistola, Vienna Ludovini, Paolo Radice

Subjects: Get full text

Corrigendum: A novel BRCA1 splicing variant detected in an early onset triple-negative breast cancer patient additionally carrying a pathogenic variant in ATM: a case report by Mara Colombo, Patrizia Mondini, Elisa Minenza, Claudia Foglia, Annamaria Mosconi, Carmen Molica, Lorenza Pistola, Vienna Ludovini, Paolo Radice

Subjects: Get full text

New Approach for Detection of Normal Alternative Splicing Events and Aberrant Spliceogenic Transcripts with Long-Range PCR and Deep RNA Sequencing by Vita Šetrajčič Dragoš, Vida Stegel, Ana Blatnik, Gašper Klančar, Mateja Krajc, Srdjan Novaković

Subjects: Get full text

Identification of a new COQ4 spliceogenic variant causing severe primary coenzyme Q deficiency by María Alcázar-Fabra, Elsebet Østergaard, Daniel J.M. Fernández-Ayala, María Andrea Desbats, Valeria Morbidoni, Laura Tomás-Gallado, Laura García-Corzo, María del Mar Blanquer-Roselló, Abigail K. Bartlett, Ana Sánchez-Cuesta, Lucía Sena, Ana Cortés-Rodríguez, María Victoria Cascajo-Almenara, David J. Pagliarini, Eva Trevisson, Sabine W. Gronborg, Gloria Brea-Calvo

Subjects: Get full text