DMD c.998C>A ;(p.S333*)

Variant ID: X-32663232-G-T

NM_004006.2(DMD):c.998C>A;(p.S333*)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Identification of Immune-Related Gene Signatures in Lung Adenocarcinoma and Lung Squamous Cell Carcinoma.

Frontiers In Immunology
Li, Na N; Wang, Jiahong J; Zhan, Xianquan X
Publication Date: 2021

Variant appearance in text: DMD: 998C>A
PubMed Link: 34887858
Variant Present in the following documents:
  • Table_3.xlsx, sheet 1
View BVdb publication page



Correction to: Comprehensive genetic characteristics of dystrophinopathies in China.

Orphanet Journal Of Rare Diseases
Ma, Peipei P; Zhang, Shu S; Zhang, Hao H; Fang, Siying S; Dong, Yuru Y; Zhang, Yan Y; Hao, Weiwei W; Wu, Shiwen S; Zhao, Yuying Y
Publication Date: 2021-06-02

Variant appearance in text: DMD: 998C>A; Ser333*
PubMed Link: 34078427
Variant Present in the following documents:
  • 13023_2021_1853_MOESM1_ESM.pdf
View BVdb publication page



Comprehensive genetic characteristics of dystrophinopathies in China.

Orphanet Journal Of Rare Diseases
Ma, Peipei P; Zhang, Shu S; Zhang, Hao H; Fang, Siying S; Dong, Yuru Y; Zhang, Yan Y; Hao, Weiwei W; Wu, Shiwen S; Zhao, Yuying Y
Publication Date: 2018-07-04

Variant appearance in text: DMD: 998C>A; Ser333*
PubMed Link: 29973226
Variant Present in the following documents:
  • 13023_2018_853_MOESM1_ESM.pdf
View BVdb publication page



Non-Ambulant Duchenne Patients Theoretically Treatable by Exon 53 Skipping have Severe Phenotype.

Journal Of Neuromuscular Diseases
Servais, Laurent L; Montus, Marie M; Guiner, Caroline Le CL; Ben Yaou, Rabah R; Annoussamy, Mélanie M; Moraux, Amélie A; Hogrel, Jean-Yves JY; Seferian, Andreea M AM; Zehrouni, Karima K; Le Moing, Anne-Gaëlle AG; Gidaro, Teresa T; Vanhulle, Catherine C; Laugel, Vincent V; Butoianu, Nina N; Cuisset, Jean-Marie JM; Sabouraud, Pascal P; Cances, Claude C; Klein, Andrea A; Leturcq, France F; Moullier, Philippe P; Voit, Thomas T
Publication Date: 2015-09-02

Variant appearance in text: DMD: 998C>A
PubMed Link: 27858743
Variant Present in the following documents:
  • Main text
  • jnd-2-3-jnd150100.pdf
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Upper limb strength and function changes during a one-year follow-up in non-ambulant patients with Duchenne Muscular Dystrophy: an observational multicenter trial.

Plos One
Seferian, Andreea Mihaela AM; Moraux, Amélie A; Annoussamy, Mélanie M; Canal, Aurélie A; Decostre, Valérie V; Diebate, Oumar O; Le Moing, Anne-Gaëlle AG; Gidaro, Teresa T; Deconinck, Nicolas N; Van Parys, Frauke F; Vereecke, Wendy W; Wittevrongel, Sylvia S; Mayer, Michèle M; Maincent, Kim K; Desguerre, Isabelle I; Thémar-Noël, Christine C; Cuisset, Jean-Marie JM; Tiffreau, Vincent V; Denis, Severine S; Jousten, Virginie V; Quijano-Roy, Susana S; Voit, Thomas T; Hogrel, Jean-Yves JY; Servais, Laurent L
Publication Date: 2015

Variant appearance in text: DMD: 998C>A
PubMed Link: 25643053
Variant Present in the following documents:
  • Main text
  • pone.0113999.pdf
View BVdb publication page



A comprehensive database of Duchenne and Becker muscular dystrophy patients (0-18 years old) in East China.

Orphanet Journal Of Rare Diseases
Li, Xihua X; Zhao, Lei L; Zhou, Shuizhen S; Hu, Chaoping C; Shi, Yiyun Y; Shi, Wei W; Li, Hui H; Liu, Fang F; Wu, Bingbing B; Wang, Yi Y
Publication Date: 2015-01-23

Variant appearance in text: DMD: 998C>A; Ser333X
PubMed Link: 25612904
Variant Present in the following documents:
  • Main text
View BVdb publication page