Annotation Detail
Information
- Associated Genes
- CAV3
- Associated Variants
-
CAV3 p.Pro105Leu (p.P105L)
(
ENST00000343849.3,
ENST00000397368.2 )
CAV3 p.Pro105Leu (p.P105L) ( ENST00000343849.3, ENST00000397368.2 ) - Associated Disease
- Muscular Dystrophies, Limb-Girdle
- Source Database
- DisGeNET
- Description
- The current study characterized the biochemical and cardiac parameters of P104L mutant caveolin-3 transgenic mice, a model of an autosomal dominant limb-girdle muscular dystrophy (LGMD1C).
- Pubmed
- 14645200
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.251139048276957
- Year of publication
- 2004
Drugs