Annotation Detail
Information
- Associated Genes
- DMD
- Associated Variants
-
DMD MUTATION
DMD MUTATION - Associated Disease
- Developmental delay (disorder)
- Source Database
- DisGeNET
- Description
- We report here five cases of CNVs involving the dystrophin gene detected by aCGH in girls referred for developmental delay, without any family history of dystrophinopathy.
- Pubmed
- 24835530
- Section of the abstract supporting the evidence
- ALL_TEXT_2/3
- Number of the section of the abstract supporting the evidence
- 2
- Number of the sentence supporting the evidence
- 4
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00081432561624091
Drugs