Varaico: Literature-Extracted Genetic Variants

Gene:DMD
Variant:p.Q146*
Back to variants list

DMD

NM_004006.3:p.Q146*

Associated Papers

Morpholino Antisense Oligomers as a Potential Therapeutic Option for the Correction of Alternative Splicing in PMD, SPG2, and HEMS.

Tantzer S et al.

Molecular Therapy. Nucleic Acids, 2018

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

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

MLPA-based genotype-phenotype analysis in 1053 Chinese patients with DMD/BMD.

Yang J et al.

Bmc Medical Genetics, 2013

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."