Varaico: Literature-Extracted Genetic Variants

Gene:DMD
Variant:p.E250*
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DMD

NM_004006.3:p.E250*

Associated Papers

Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.

Wei J et al.

Plos Biology, 2024

38865309 (PubMed )
Supplement: pbio.3002680.s016.xlsx › ClinVar

Restoration of dystrophin expression in mice by suppressing a nonsense mutation through the incorporation of unnatural amino acids.

Shi N et al.

Nature Biomedical Engineering, 2022

Rare variants discovery by extensive whole-genome sequencing of the Han Chinese population in Taiwan: Applications to cardiovascular medicine.

Juang JJ et al.

Journal of Advanced Research, 2021

Comprehensive genetic characteristics of dystrophinopathies in China.

Ma P et al.

Orphanet Journal of Rare Diseases, 2018

29973226 (PubMed )
Supplement: 13023_2018_853_MOESM1_ESM.pdf
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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."