Annotation Detail
Information
- Associated Genes
- DMD
- Associated Variants
-
DMD MUTATION
DMD MUTATION - Associated Disease
- muscular dystrophy
- Source Database
- DisGeNET
- Description
- Through these cases, we discussed the challenges of genetic counseling in the family, regarding the predictive issues for male individuals at risk for a muscular dystrophy without precise knowledge of the clinical consequences of some CNVs in the DMD gene.
- Pubmed
- 24835530
- Section of the abstract supporting the evidence
- ALL_TEXT_3/3
- Number of the section of the abstract supporting the evidence
- 3
- Number of the sentence supporting the evidence
- 8
- Original source reporting the Gene Disease association
- BeFree,CTD_human,GAD,LHGDN
- DisGENET score for the Gene Disease association
- 0.222732560862879
Drugs