Annotation Detail
Information
- Associated Genes
- LAMB3
- Associated Variants
-
LAMB3 p.Arg635Ter (p.R635*)
(
ENST00000367030.7,
ENST00000356082.9,
ENST00000391911.5 )
LAMB3 p.Arg635Ter (p.R635*) ( ENST00000356082.9, ENST00000367030.7, ENST00000391911.5 ) - Associated Disease
- junctional epidermolysis bullosa
- Source Database
- DisGeNET
- Description
- Predominance of the recurrent mutation R635X in the LAMB3 gene in European patients with Herlitz junctional epidermolysis bullosa has implications for mutation detection strategy.
- Pubmed
- 9242513
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.136316306889811
- Year of publication
- 1997
Drugs