Varaico: Literature-Extracted Genetic Variants

Gene:DMD
Variant:p.Q189*
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DMD

NM_004006.3:p.Q189*

Associated Papers

Comprehensive analysis of 2097 patients with dystrophinopathy based on a database from 2011 to 2021.

Zhao L et al.

Orphanet Journal of Rare Diseases, 2024

39182149 (PubMed )
Supplement: 13023_2024_3217_MOESM2_ESM.docx

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

Protein- and mRNA-based phenotype-genotype correlations in DMD/BMD with point mutations and molecular basis for BMD with nonsense and frameshift mutations in the DMD gene.

Deburgrave N et al.

Human Mutation, 2007

Mutation rates in the dystrophin gene: a hotspot of mutation at a CpG dinucleotide.

Buzin CH et al.

Human Mutation, 2005

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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."