DMD c.3432+1G>A

Variant ID: X-32481555-C-T

NM_004006.2(DMD):c.3432+1G>A

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: DMD: 3432+1G>A
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
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: 3432+1G>A
PubMed Link: 34140489
Variant Present in the following documents:
  • 41467_2021_23996_MOESM1_ESM.pdf
View BVdb publication page



Splicing mutations in human genetic disorders: examples, detection, and confirmation.

Journal Of Applied Genetics
Anna, Abramowicz A; Monika, Gos G
Publication Date: 2018-08

Variant appearance in text: DMD: 3432+1G>A
PubMed Link: 29680930
Variant Present in the following documents:
  • Main text
  • 13353_2018_Article_444.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: 3432+1G>A
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



Prevalence and Characteristics of Chinese Patients With Duchenne and Becker Muscular Dystrophy: A Territory Wide Collaborative Study in Hong Kong.

Child Neurology Open
Chan, Sophelia H S SHS; Lo, Ivan F M IFM; Cherk, Sharon W W SWW; Cheng, Wai Wai WW; Fung, Eva L W ELW; Yeung, Wai Lan WL; Ngan, Mary M; Lee, Wing Cheong WC; Kwong, Ling L; Wong, Suet Na SN; Ma, Che Kwan CK; Tai, Shuk Mui SM; Ng, Grace S F GSF; Wu, Shun Ping SP; Wong, Virginia C N VCN
Publication Date: 2015

Variant appearance in text: DMD: 3432+1G>A
PubMed Link: 28503591
Variant Present in the following documents:
  • Main text
View BVdb publication page