DICER1 c.1745T>C ;(p.I582T)

Variant ID: 14-95582797-A-G

NM_177438.2(DICER1):c.1745T>C;(p.I582T)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Temporal order of RNase IIIb and loss-of-function mutations during development determines phenotype in DICER1 syndrome: a unique variant of the two-hit tumor suppression model.

F1000Research
Brenneman, Mark M; Field, Amanda A; Yang, Jiandong J; Williams, Gretchen G; Doros, Leslie L; Rossi, Christopher C; Schultz, Kris Ann KA; Rosenberg, Avi A; Ivanovich, Jennifer J; Turner, Joyce J; Gordish-Dressman, Heather H; Stewart, Douglas D; Yu, Weiying W; Harris, Anne A; Schoettler, Peter P; Goodfellow, Paul P; Dehner, Louis L; Messinger, Yoav Y; Hill, D Ashley DA
Publication Date: 2015

Variant appearance in text: DICER1: I582T
PubMed Link: 26925222
Variant Present in the following documents:
  • Main text
  • f1000research-4-14447.pdf
View BVdb publication page