HR c.143C>T ;(p.P48L)

Variant ID: 8-21986541-G-A

NM_005144.4(HR):c.143C>T;(p.P48L)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Angiosarcoma heterogeneity and potential therapeutic vulnerability to immune checkpoint blockade: insights from genomic sequencing.

Genome Medicine
Boichard, Amélie A; Wagner, Michael J MJ; Kurzrock, Razelle R
Publication Date: 2020-07-09

Variant appearance in text: HR: 143C>T; Pro48Leu
PubMed Link: 32646514
Variant Present in the following documents:
  • 13073_2020_753_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Epigenomic and genomic analysis of transcriptome modulation in skin cutaneous melanoma.

Aging
Chen, Wuzhen W; Cheng, Pu P; Jiang, Jingxin J; Ren, Yunqing Y; Wu, Dang D; Xue, Dan D
Publication Date: 2020-07-07

Variant appearance in text: HR: 143C>T
PubMed Link: 32639949
Variant Present in the following documents:
  • aging-12-103115-s013..xlsx, sheet 1
View BVdb publication page



Statin-Related Myotoxicity: A Comprehensive Review of Pharmacokinetic, Pharmacogenomic and Muscle Components.

Journal Of Clinical Medicine
Turner, Richard Myles RM; Pirmohamed, Munir M
Publication Date: 2019-12-20

Variant appearance in text: HR: P48L
PubMed Link: 31861911
Variant Present in the following documents:
  • Main text
  • jcm-09-00022.pdf
View BVdb publication page