HR c.853G>C ;(p.G285R)

Variant ID: 8-21985102-C-G

NM_005144.4(HR):c.853G>C;(p.G285R)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


LZTR1: A promising adaptor of the CUL3 family.

Oncology Letters
Zhang, Hui H; Cao, Xinyi X; Wang, Jian J; Li, Qian Q; Zhao, Yiting Y; Jin, Xiaofeng X
Publication Date: 2021-07

Variant appearance in text: HR: Gly285Arg
PubMed Link: 34113392
Variant Present in the following documents:
  • ol-22-01-12825.pdf
View BVdb publication page



Risk stratification by residual enzyme activity after newborn screening for medium-chain acyl-CoA dehyrogenase deficiency: data from a cohort study.

Orphanet Journal Of Rare Diseases
Touw, Catharina M L CM; Smit, G Peter A GP; de Vries, Maaike M; de Klerk, Johannis B C JB; Bosch, Annet M AM; Visser, Gepke G; Mulder, Margot F MF; Rubio-Gozalbo, M Estela ME; Elvers, Bert B; Niezen-Koning, Klary E KE; Wanders, Ronald J A RJ; Waterham, Hans R HR; Reijngoud, Dirk-Jan DJ; Derks, Terry G J TG
Publication Date: 2012-05-25

Variant appearance in text: HR: G285R
PubMed Link: 22630369
Variant Present in the following documents:
  • Main text
  • 1750-1172-7-30.pdf
View BVdb publication page