Annotation Detail
Information
- Associated Genes
- RAPSN
- Associated Variants
-
RAPSN p.Asn88Lys (p.N88K)
(
ENST00000298854.7,
ENST00000529341.1,
ENST00000352508.7,
ENST00000524487.5 )
RAPSN p.Asn88Lys (p.N88K) ( ENST00000298854.7, ENST00000352508.7, ENST00000524487.5, ENST00000529341.1 ) - Associated Disease
- Myasthenic Syndromes, Congenital
- Source Database
- DisGeNET
- Description
- The RAPSN mutation N88K is a frequent cause of rapsyn-related CMS in European patients.
- Pubmed
- 12796535
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.019874845791847
- Year of publication
- 2003
Drugs