Annotation Detail
Information
- Associated Genes
- DMD
- Associated Variants
-
DMD MUTATION
DMD MUTATION - Associated Disease
- Becker muscular dystrophy
- Source Database
- DisGeNET
- Description
- Exon-skipping therapies aim to convert Duchenne muscular dystrophy (DMD) into less severe Becker muscular dystrophy (BMD) by altering pre-mRNA splicing to restore an open reading frame, allowing translation of an internally deleted and partially functional dystrophin protein.
- Pubmed
- 25612243
- Section of the abstract supporting the evidence
- OBJECTIVE
- Number of the section of the abstract supporting the evidence
- 1
- Number of the sentence supporting the evidence
- 1
- Original source reporting the Gene Disease association
- BeFree,CLINVAR,GAD,MGD,ORPHANET,UNIPROT
- DisGENET score for the Gene Disease association
- 0.497741173882984
Drugs