Varaico: Literature-Extracted Genetic Variants

Gene:DMD
Variant:p.E2890K
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DMD

NM_004006.3:p.E2890K

Associated Papers

Combinatorial activation of the WNT-dependent fibrogenic program by distinct complement subunits in dystrophic muscle.

Florio F et al.

Embo Molecular Medicine, 2023

37927228 (PubMed )
Supplement: EMMM-15-e17405-s002.pdf

Efficient precise in vivo base editing in adult dystrophic mice.

Xu L et al.

Nature Communications, 2021

34140489 (PubMed )
Supplement: 41467_2021_23996_MOESM1_ESM.pdf

MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.

Mort M et al.

Genome Biology, 2014

24451234 (PubMed )
Supplement: gb-2014-15-1-r19-S1.pdf

One hundred twenty-one dystrophin point mutations detected from stored DNA samples by combinatorial denaturing high-performance liquid chromatography.

Torella A et al.

The Journal of Molecular Diagnostics : Jmd, 2010

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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."