Annotation Detail
Information
- Associated Genes
- BRCA2
- Associated Variants
-
BRCA2 MUTATION
BRCA2 MUTATION - Associated Disease
- Spastic syndrome
- Source Database
- DisGeNET
- Description
- The analysis of the homopolymers stretches of 6 bp or longer using the BRCA HP kit (Multiplicom) increased the specificity of the detection of BRCA1 and BRCA2 mutations to 99.99%.
- Pubmed
- 25136594
- Section of the abstract supporting the evidence
- ALL_TEXT_3/3
- Number of the section of the abstract supporting the evidence
- 3
- Number of the sentence supporting the evidence
- 10
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
Drugs