DMD c.3747G>A ;(p.W1249*)

Variant ID: X-32466612-C-T

NM_004006.2(DMD):c.3747G>A;(p.W1249*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


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: 3747G>A
PubMed Link: 34140489
Variant Present in the following documents:
  • 41467_2021_23996_MOESM1_ESM.pdf
View BVdb publication page



Targeted massively parallel sequencing of autism spectrum disorder-associated genes in a case control cohort reveals rare loss-of-function risk variants.

Molecular Autism
Griswold, Anthony J AJ; Dueker, Nicole D ND; Van Booven, Derek D; Rantus, Joseph A JA; Jaworski, James M JM; Slifer, Susan H SH; Schmidt, Michael A MA; Hulme, William W; Konidari, Ioanna I; Whitehead, Patrice L PL; Cuccaro, Michael L ML; Martin, Eden R ER; Haines, Jonathan L JL; Gilbert, John R JR; Hussman, John P JP; Pericak-Vance, Margaret A MA
Publication Date: 2015

Variant appearance in text: DMD: W1249X
PubMed Link: 26185613
Variant Present in the following documents:
  • Main text
  • 13229_2015_Article_34.pdf
View BVdb publication page