DMD c.5533G>T ;(p.E1845*)

Variant ID: X-32364113-C-A

NM_004006.2(DMD):c.5533G>T;(p.E1845*)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Comparison of In-Frame Deletion, Homology-Directed Repair, and Prime Editing-Based Correction of Duchenne Muscular Dystrophy Mutations.

Biomolecules
Zhao, Xiaoying X; Qu, Kunli K; Curci, Benedetta B; Yang, Huanming H; Bolund, Lars L; Lin, Lin L; Luo, Yonglun Y
Publication Date: 2023-05-22

Variant appearance in text: DMD: 5533G>T
PubMed Link: 37238739
Variant Present in the following documents:
  • Main text
  • biomolecules-13-00870.pdf
View BVdb publication page



Duchenne muscular dystrophy hiPSC-derived myoblast drug screen identifies compounds that ameliorate disease in mdx mice.

Jci Insight
Sun, Congshan C; Choi, In Young IY; Rovira Gonzalez, Yazmin I YI; Andersen, Peter P; Talbot, C Conover CC; Iyer, Shama R SR; Lovering, Richard M RM; Wagner, Kathryn R KR; Lee, Gabsang G
Publication Date: 2020-06-04

Variant appearance in text: DMD: 5533G>T
PubMed Link: 32343677
Variant Present in the following documents:
  • Main text
View BVdb publication page



Quality assurance for Duchenne and Becker muscular dystrophy genetic testing: development of a genomic DNA reference material panel.

The Journal Of Molecular Diagnostics : Jmd
Kalman, Lisa L; Leonard, Jay J; Gerry, Norman N; Tarleton, Jack J; Bridges, Christina C; Gastier-Foster, Julie M JM; Pyatt, Robert E RE; Stonerock, Eileen E; Johnson, Monique A MA; Richards, C Sue CS; Schrijver, Iris I; Ma, Tianhui T; Miller, Vanessa Rangel VR; Adadevoh, Yetsa Y; Furlong, Pat P; Beiswanger, Christine C; Toji, Lorraine L
Publication Date: 2011-03

Variant appearance in text: DMD: 5533G>T; E1845X
PubMed Link: 21354051
Variant Present in the following documents:
  • Main text
View BVdb publication page