Annotation Detail
Information
- Associated Genes
- FANCA
- Associated Variants
-
FANCA MUTATION
FANCA MUTATION - Associated Disease
- Tyrosinemia, Type I
- Source Database
- DisGeNET
- Description
- Functional analysis and in vitro correction of splicing FAH mutations causing tyrosinemia type I.
- Pubmed
- 23895425
- 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
- 0.00244297684872273
Drugs