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: TNFSF11: 596T>A; Met199Lys
Identification of novel mutation in RANKL by whole-exome sequencing in a Thai family with osteopetrosis; a case report and review of RANKL osteopetrosis.
Identification of novel mutation in RANKL by whole-exome sequencing in a Thai family with osteopetrosis; a case report and review of RANKL osteopetrosis.
RANKL cytokine: from pioneer of the osteoimmunology era to cure for a rare disease.
Clinical & Developmental Immunology
Lo Iacono, Nadia N; Pangrazio, Alessandra A; Abinun, Mario M; Bredius, Robbert R; Zecca, Marco M; Blair, Harry C HC; Vezzoni, Paolo P; Villa, Anna A; Sobacchi, Cristina C