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: APC: 1605_1606del; Glu536fs
A novel frameshift mutation in exon 12 of the adenomatous polyposis coli gene in an Italian family with familial adenomatous polyposis and desmoid tumour.
Journal Of Molecular And Genetic Medicine : An International Journal Of Biomedical Research
Vietri, Maria Teresa MT; Teresa, Vietri Maria VM; Selvaggi, Francesco F; Francesco, Selvaggi S; De Paola, Maria Laura ML; Laura, De Paola Maria de PM; Sciaudone, Guido G; Guido, Sciaudone S; Guadagni, Ilaria I; Ilaria, Guadagni G; Parisi, Mariarita M; Mariarita, Parisi P; Pellino, Gianluca G; Gianluca, Pellino P; Molinari, Anna Maria AM; Maria, Molinari Anna MA; Cioffi, Michele M; Michele, Cioffi C