DICER1 c.2650+1G>T

Variant ID: 14-95574216-C-A

NM_177438.2(DICER1):c.2650+1G>T

This variant was identified in 2 publications

View GRCh38 version.




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: DICER1: 2650+1G>T
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Structural renal abnormalities in the DICER1 syndrome: a family-based cohort study.

Pediatric Nephrology (Berlin, Germany)
Khan, Nicholas E NE; Ling, Alexander A; Raske, Molly E ME; Harney, Laura A LA; Carr, Ann G AG; Field, Amanda A; Harris, Anne K AK; Williams, Gretchen M GM; Dehner, Louis P LP; Messinger, Yoav H YH; Hill, D Ashley DA; Schultz, Kris Ann P KAP; Stewart, Douglas R DR
Publication Date: 2018-12

Variant appearance in text: DICER1: 2650+1G>T
PubMed Link: 30178239
Variant Present in the following documents:
  • Main text
View BVdb publication page