Varaico: Literature-Extracted Genetic Variants

Gene:DMD
Variant:p.W143*
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DMD

NM_004006.3:p.W143*

Associated Papers

Current Classification of Canine Muscular Dystrophies and Identification of New Variants.

Shelton GD et al.

Genes, 2023

37628610 (PubMed )
Supplement: genes-14-01557-s001.zip › Table_S1._List_of_the_unique_coding_variants_of_each_dog.xlsx › Brittany_case_2

Prime Editing for Human Gene Therapy: Where Are We Now?

Godbout K et al.

Cells, 2023

Prime Editing Permits the Introduction of Specific Mutations in the Gene Responsible for Duchenne Muscular Dystrophy.

Happi Mbakam C et al.

International Journal of Molecular Sciences, 2022

Comprehensive analysis for genetic diagnosis of Dystrophinopathies in Japan.

Okubo M et al.

Orphanet Journal of Rare Diseases, 2017

28859693 (PubMed )
Supplement: 13023_2017_703_MOESM1_ESM.pdf

Clinically relevant aminoglycosides can suppress disease-associated premature stop mutations in the IDUA and P53 cDNAs in a mammalian translation system.

Keeling KM et al.

Journal of Molecular Medicine (berlin, Germany), 2002

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."