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: MVK: 608T>C; Val203Ala
A web-based collection of genotype-phenotype associations in hereditary recurrent fevers from the Eurofever registry.
Orphanet Journal Of Rare Diseases
Papa, Riccardo R; Doglio, Matteo M; Lachmann, Helen J HJ; Ozen, Seza S; Frenkel, Joost J; Simon, Anna A; Neven, Bénédicte B; Kuemmerle-Deschner, Jasmin J; Ozgodan, Huri H; Caorsi, Roberta R; Federici, Silvia S; Finetti, Martina M; Trachana, Maria M; Brunner, Jurgen J; Bezrodnik, Liliana L; Pinedo Gago, Mari Carmen MC; Maggio, Maria Cristina MC; Tsitsami, Elena E; Al Suwairi, Wafaa W; Espada, Graciela G; Shcherbina, Anna A; Aksu, Guzide G; Ruperto, Nicolino N; Martini, Alberto A; Ceccherini, Isabella I; Gattorno, Marco M; ,