Publications:

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: TTN: 100704C>A; Tyr33568Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

Genotype phenotype analysis in a family carrying truncating mutations in the titin gene.

Acta Myologica : Myopathies And Cardiomyopathies : Official Journal Of The Mediterranean Society Of Myology

Peddareddygari, Leema Reddy LR; Baisre-de León, Ada A; Grewal, Raji P RP

Publication Date: 2021-03

Variant appearance in text: TTN: 100704C>A; Tyr33568*

PubMed Link: 33870097

Variant Present in the following documents:

• Main text
• am-2021-01-61.pdf

View BVdb publication page