DMD c.1952G>A ;(p.W651*)

Variant ID: X-32583859-C-T

NM_004006.2(DMD):c.1952G>A;(p.W651*)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


LMNA-related muscular dystrophy: Identification of variants in alternative genes and personalized clinical translation.

Frontiers In Genetics
Cesar, Sergi S; Coll, Monica M; Fiol, Victoria V; Fernandez-Falgueras, Anna A; Cruzalegui, Jose J; Iglesias, Anna A; Moll, Isaac I; Perez-Serra, Alexandra A; Martínez-Barrios, Estefanía E; Ferrer-Costa, Carles C; Del Olmo, Bernat B; Puigmulè, Marta M; Alcalde, Mireia M; Lopez, Laura L; Pico, Ferran F; Berrueco, Rubén R; Brugada, Josep J; Zschaeck, Irene I; Natera-de Benito, Daniel D; Carrera-García, Laura L; Exposito-Escudero, Jessica J; Ortez, Carlos C; Nascimento, Andrés A; Brugada, Ramon R; Sarquella-Brugada, Georgia G; Campuzano, Oscar O
Publication Date: 2023

Variant appearance in text: DMD: 1952G>A
PubMed Link: 37035729
Variant Present in the following documents:
  • Main text
View BVdb publication page



Integrative proteogenomic characterization of hepatocellular carcinoma across etiologies and stages.

Nature Communications
Ng, Charlotte K Y CKY; Dazert, Eva E; Boldanova, Tuyana T; Coto-Llerena, Mairene M; Nuciforo, Sandro S; Ercan, Caner C; Suslov, Aleksei A; Meier, Marie-Anne MA; Bock, Thomas T; Schmidt, Alexander A; Ketterer, Sylvia S; Wang, Xueya X; Wieland, Stefan S; Matter, Matthias S MS; Colombi, Marco M; Piscuoglio, Salvatore S; Terracciano, Luigi M LM; Hall, Michael N MN; Heim, Markus H MH
Publication Date: 2022-05-04

Variant appearance in text: rs128626242
PubMed Link: 35508466
Variant Present in the following documents:
  • 41467_2022_29960_MOESM12_ESM.xlsx, sheet 1
View BVdb publication page



Efficient precise in vivo base editing in adult dystrophic mice.

Nature Communications
Xu, Li L; Zhang, Chen C; Li, Haiwen H; Wang, Peipei P; Gao, Yandi Y; Mokadam, Nahush A NA; Ma, Jianjie J; Arnold, W David WD; Han, Renzhi R
Publication Date: 2021-06-17

Variant appearance in text: DMD: 1952G>A
PubMed Link: 34140489
Variant Present in the following documents:
  • 41467_2021_23996_MOESM1_ESM.pdf
View BVdb publication page



Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S
Publication Date: 2017-10

Variant appearance in text: DMD: 1952G>A; Trp651Ter
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



New trends in aminoglycosides use.

Medchemcomm
Fosso, Marina Y MY; Li, Yijia Y; Garneau-Tsodikova, Sylvie S
Publication Date: 2014-08-01

Variant appearance in text: DMD: W651X
PubMed Link: 25071928
Variant Present in the following documents:
  • Main text
View BVdb publication page