HR c.734G>T ;(p.R245L)

Variant ID: 8-21985221-C-A

NM_005144.4(HR):c.734G>T;(p.R245L)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


[Clinical analyses of 50 cases of myelodysplastic syndrome with deletion of chromosome 5q].

Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi
He, Y Y; Du, X X; Weng, J Y JY; Deng, C X CX; Geng, S X SX; Lu, Z S ZS; Li, M M MM; Liao, P J PJ; Luo, C W CW; Wu, S J SJ; Zhong, L Y LY
Publication Date: 2017-02-14

Variant appearance in text: HR: 734G>T
PubMed Link: 28279041
Variant Present in the following documents:
  • Main text
View BVdb publication page



Structural analysis of Notch-regulating Rumi reveals basis for pathogenic mutations.

Nature Chemical Biology
Yu, Hongjun H; Takeuchi, Hideyuki H; Takeuchi, Megumi M; Liu, Qun Q; Kantharia, Joshua J; Haltiwanger, Robert S RS; Li, Huilin H
Publication Date: 2016-09

Variant appearance in text: HR: R245L
PubMed Link: 27428513
Variant Present in the following documents:
  • nihms787740.pdf
View BVdb publication page