DMD c.7202G>A ;(p.R2401K)

Variant ID: X-31838199-C-T

NM_004006.2(DMD):c.7202G>A;(p.R2401K)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


High throughput profiling of undifferentiated pleomorphic sarcomas identifies two main subgroups with distinct immune profile, clinical outcome and sensitivity to targeted therapies.

Ebiomedicine
Toulmonde, Maud M; Lucchesi, Carlo C; Verbeke, Stéphanie S; Crombe, Amandine A; Adam, Julien J; Geneste, Damien D; Chaire, Vanessa V; Laroche-Clary, Audrey A; Perret, Raul R; Bertucci, François F; Bertolo, Frederic F; Bianchini, Laurence L; Dadone-Montaudie, Bérengère B; Hembrough, Todd T; Sweet, Steve S; Kim, Yeoun Jin YJ; Cecchi, Fabiola F; Le Loarer, François F; Italiano, Antoine A
Publication Date: 2020-12

Variant appearance in text: DMD: 7202G>A
PubMed Link: 33254023
Variant Present in the following documents:
  • mmc5.xlsx, sheet 1
View BVdb publication page



Molecular characterization of exonic rearrangements and frame shifts in the dystrophin gene in Duchenne muscular dystrophy patients in a Saudi community.

Human Genomics
Elhawary, Nasser A NA; Jiffri, Essam H EH; Jambi, Samira S; Mufti, Ahmad H AH; Dannoun, Anas A; Kordi, Hassan H; Khogeer, Asim A; Jiffri, Osama H OH; Elhawary, Abdelrahman N AN; Tayeb, Mohammed T MT
Publication Date: 2018-04-10

Variant appearance in text: DMD: Arg2401Lys
PubMed Link: 29631625
Variant Present in the following documents:
  • Main text
  • 40246_2018_Article_152.pdf
View BVdb publication page