Annotation Detail
Information
- Associated Genes
- DES
- Associated Variants
-
DES MUTATION
DES MUTATION - Associated Disease
- MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
- Source Database
- DisGeNET
- Description
- Structural and functional analysis of a new desmin variant causing desmin-related myopathy.
- Pubmed
- 11668632
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.563528744337044
- Year of publication
- 2001
Drugs