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DMD c.8692C>T ;(p.Q2898*)
Variant ID: X-31496468-G-A
NM_004006.2(
DMD
):c.8692C>T;(p.Q2898*)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Cellular senescence-mediated exacerbation of Duchenne muscular dystrophy.
Scientific Reports
Sugihara, Hidetoshi H; Teramoto, Naomi N; Nakamura, Katsuyuki K; Shiga, Takanori T; Shirakawa, Taku T; Matsuo, Masafumi M; Ogasawara, Masashi M; Nishino, Ichizo I; Matsuwaki, Takashi T; Nishihara, Masugi M; Yamanouchi, Keitaro K
Publication Date: 2020-10-12
Variant appearance in text: DMD: 8692C>T; Q2898X
PubMed Link:
33046751
Variant Present in the following documents:
41598_2020_73315_MOESM1_ESM.pdf
View BVdb publication page
Genetic and clinical specificity of 26 symptomatic carriers for dystrophinopathies at pediatric age.
European Journal Of Human Genetics : Ejhg
Mercier, Sandra S; Toutain, Annick A; Toussaint, Aurélie A; Raynaud, Martine M; de Barace, Claire C; Marcorelles, Pascale P; Pasquier, Laurent L; Blayau, Martine M; Espil, Caroline C; Parent, Philippe P; Journel, Hubert H; Lazaro, Leila L; Andoni Urtizberea, Jon J; Moerman, Alexandre A; Faivre, Laurence L; Eymard, Bruno B; Maincent, Kim K; Gherardi, Romain R; Chaigne, Denys D; Ben Yaou, Rabah R; Leturcq, France F; Chelly, Jamel J; Desguerre, Isabelle I
Publication Date: 2013-08
Variant appearance in text: DMD: 8692C>T; Gln2898X
PubMed Link:
23299919
Variant Present in the following documents:
Main text
View BVdb publication page