Annotation Detail
Information
- Associated Genes
- FANCA
- Associated Variants
-
FANCA MUTATION
FANCA MUTATION - Associated Disease
- Tyrosinemia, Type I
- Source Database
- DisGeNET
- Description
- Identification of a combined missense/splice-site mutation in FAH causing tyrosinemia type 1.
- Pubmed
- 24756054
- 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