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DMD c.3217G>T ;(p.E1073*)
Variant ID: X-32482762-C-A
NM_004006.2(
DMD
):c.3217G>T;(p.E1073*)
This variant was identified in 4 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
The Potential of Induced Pluripotent Stem Cells to Test Gene Therapy Approaches for Neuromuscular and Motor Neuron Disorders.
Frontiers In Cell And Developmental Biology
Cappella, Marisa M; Elouej, Sahar S; Biferi, Maria Grazia MG
Publication Date: 2021
Variant appearance in text: DMD: 3217G>T
PubMed Link:
33937264
Variant Present in the following documents:
Main text
View BVdb publication page
Advances in Stem Cell Modeling of Dystrophin-Associated Disease: Implications for the Wider World of Dilated Cardiomyopathy.
Frontiers In Physiology
Pioner, Josè Manuel JM; Fornaro, Alessandra A; Coppini, Raffaele R; Ceschia, Nicole N; Sacconi, Leonardo L; Donati, Maria Alice MA; Favilli, Silvia S; Poggesi, Corrado C; Olivotto, Iacopo I; Ferrantini, Cecilia C
Publication Date: 2020
Variant appearance in text: DMD: 3217G>T
PubMed Link:
32477154
Variant Present in the following documents:
Main text
fphys-11-00368.pdf
View BVdb publication page
Can Human Pluripotent Stem Cell-Derived Cardiomyocytes Advance Understanding of Muscular Dystrophies?
Journal Of Neuromuscular Diseases
Kalra, Spandan S; Montanaro, Federica F; Denning, Chris C
Publication Date: 2016-08-30
Variant appearance in text: DMD: 3217G>T
PubMed Link:
27854224
Variant Present in the following documents:
Main text
jnd-3-jnd150133.pdf
View BVdb publication page
Exon skipping and gene transfer restore dystrophin expression in human induced pluripotent stem cells-cardiomyocytes harboring DMD mutations.
Stem Cells And Development
Dick, Emily E; Kalra, Spandan S; Anderson, David D; George, Vinoj V; Ritso, Morten M; Laval, Steven H SH; Barresi, Rita R; Aartsma-Rus, Annemieke A; Lochmüller, Hanns H; Denning, Chris C
Publication Date: 2013-10-15
Variant appearance in text: DMD: 3217G>T
PubMed Link:
23829870
Variant Present in the following documents:
Main text
View BVdb publication page