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DMD c.7683G>A ;(p.W2561*)
Variant ID: X-31697681-C-T
NM_004006.2(
DMD
):c.7683G>A;(p.W2561*)
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:
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: 7683G>A
PubMed Link:
34140489
Variant Present in the following documents:
41467_2021_23996_MOESM1_ESM.pdf
View BVdb publication page
Diagnosis of late-onset Pompe disease and other muscle disorders by next-generation sequencing.
Orphanet Journal Of Rare Diseases
Lévesque, Sébastien S; Auray-Blais, Christiane C; Gravel, Elaine E; Boutin, Michel M; Dempsey-Nunez, Laura L; Jacques, Pierre-Etienne PE; Chenier, Sébastien S; Larue, Sandrine S; Rioux, Marie-France MF; Al-Hertani, Walla W; Nadeau, Amelie A; Mathieu, Jean J; Maranda, Bruno B; Désilets, Valérie V; Waters, Paula J PJ; Keutzer, Joan J; Austin, Stephanie S; Kishnani, Priya P
Publication Date: 2016-01-25
Variant appearance in text: DMD: 7683G>A; Trp2561Ter
PubMed Link:
26809617
Variant Present in the following documents:
Main text
13023_2016_Article_390.pdf
View BVdb publication page