Annotation Detail
Information
- Associated Genes
- RAD51
- Associated Variants
-
RAD51 MUTATION
RAD51 MUTATION - Associated Disease
- FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
- Source Database
- DisGeNET
- Description
- Here, we report a de novo heterozygous T131P mutation in RAD51/FANCR, the key recombinase essential for homologous recombination, in a patient with Fanconi anemia-like phenotype.
- Pubmed
- 26253028
- Section of the abstract supporting the evidence
- ALL_TEXT_1/3
- Number of the section of the abstract supporting the evidence
- 1
- Number of the sentence supporting the evidence
- 2
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00325730246496364
Drugs