Annotation Detail
Information
- Associated Genes
- DES
- Associated Variants
-
DES p.Ser13Phe (p.S13F)
(
ENST00000373960.4 )
DES p.Ser13Phe (p.S13F) ( ENST00000373960.4 ) - Associated Disease
- Heart block
- Source Database
- DisGeNET
- Description
- Characterization of a novel S13F desmin mutation associated with desmin myopathy and heart block in a Chinese family.
- Pubmed
- 18061454
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000542883744160607
- Year of publication
- 2008
Drugs