Network expansion of genetic associations defines a pleiotropy map of human cell biology.
Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23
Variant appearance in text: MSH6: 3801+1_3801+5del
High Prevalence of Constitutional Mismatch Repair Deficiency in a Pediatric T-cell Lymphoblastic Lymphoma Cohort.
Hemasphere
Kroeze, Emma E; Weijers, Dilys D DD; Hagleitner, Melanie M MM; de Groot-Kruseman, Hester A HA; Jongmans, Marjolijn C J MCJ; Kuiper, Roland P RP; Pieters, Rob R; Meijerink, Jules P P JPP; Loeffen, Jan L C JLC
Publication Date: 2022-01
Variant appearance in text: MSH6: 3801+1_3801+5del
RNA analysis of cancer predisposing genes in formalin-fixed paraffin-embedded tissue determines aberrant splicing.
European Journal Of Human Genetics : Ejhg
Jansen, Anne Ml AM; van der Klift, Heleen M HM; Roos, Marieke Ae MA; van Eendenburg, Jaap Dh JD; Tops, Carli Mj CM; Wijnen, Juul T JT; Hes, Frederik J FJ; Morreau, Hans H; van Wezel, Tom T
Publication Date: 2018-08
Variant appearance in text: MSH6: 3801+1_3801+5del