DMD c.142_144delinsCAT ;(p.R48H)

Variant ID: X-32867887-CCT-ATG

NM_004006.2(DMD):c.142_144delinsCAT;(p.R48H)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports
Šimčíková, Daniela D; Heneberg, Petr P
Publication Date: 2019-12-09

Variant appearance in text: DMD: R48H
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



The Impact of Peer Substance Use and Polygenic Risk on Trajectories of Heavy Episodic Drinking Across Adolescence and Emerging Adulthood.

Alcoholism, Clinical And Experimental Research
Li, James J JJ; Cho, Seung Bin SB; Salvatore, Jessica E JE; Edenberg, Howard J HJ; Agrawal, Arpana A; Chorlian, David B DB; Porjesz, Bernice B; Hesselbrock, Victor V; , ; Dick, Danielle M DM
Publication Date: 2017-01

Variant appearance in text: DMD: Arg48His
PubMed Link: 27991676
Variant Present in the following documents:
  • Main text
View BVdb publication page