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: MLH1: 887T>G; Leu296Ter
Prevalence and spectrum of DNA mismatch repair gene variation in the general Chinese population.
Journal Of Medical Genetics
Zhang, Li L; Qin, Zixin Z; Huang, Teng T; Tam, Benjamin B; Ruan, Yongsen Y; Guo, Maoni M; Wu, Xiaobing X; Li, Jiaheng J; Zhao, Bojin B; Chian, Jia Sheng JS; Wang, Xiaoyu X; Wang, Lei L; Wang, San Ming SM
Publication Date: 2022-07
Variant appearance in text: MLH1: 887T>G; Leu296Ter; rs63750547
A next-generation sequencing-based strategy combining microsatellite instability and tumor mutation burden for comprehensive molecular diagnosis of advanced colorectal cancer.
A molecular inversion probe-based next-generation sequencing panel to detect germline mutations in Chinese early-onset colorectal cancer patients.
Oncotarget
Zhang, Junxiao J; Wang, Xiaoyan X; de Voer, Richarda M RM; Hehir-Kwa, Jayne Y JY; Kamping, Eveline J EJ; Weren, Robbert D A RDA; Nelen, Marcel M; Hoischen, Alexander A; Ligtenberg, Marjolijn J L MJL; Hoogerbrugge, Nicoline N; Yang, Xiangling X; Yang, Zihuan Z; Fan, Xinjuan X; Wang, Lei L; Liu, Huanliang H; Wang, Jianping J; Kuiper, Roland P RP; van Kessel, Ad Geurts AG
Publication Date: 2017-04-11
Variant appearance in text: MLH1: 887T>G; Leu296Ter