Annotation Detail
Information
- Associated Genes
- LIPC
- Associated Variants
-
LIPC MUTATION
LIPC MUTATION - Associated Disease
- Woolly Hair, Autosomal Recessive
- Source Database
- DisGeNET
- Description
- Expression studies of a novel splice site mutation in the LIPH gene identified in a Japanese patient with autosomal recessive woolly hair.
- Pubmed
- 25271093
- Section of the abstract supporting the evidence
- TITLE
- Number of the section of the abstract supporting the evidence
- 0
- Number of the sentence supporting the evidence
- 0
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00135720936040152
Drugs