Annotation Detail
Information
- Associated Genes
- GAA
- Associated Variants
-
GAA MUTATION
GAA MUTATION - Associated Disease
- Friedreich ataxia
- Source Database
- DisGeNET
- Description
- Molecular testing for Friedreich ataxia showed significantly expanded GAA repeats at 799 (abnormal >67 GAA repeats) on one allele and a heterozygous disease causing mutation, c.317T>C (p.Leu106Ser) on the other allele, confirming the diagnosis.
- Pubmed
- 25149925
- 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
- 4
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0225296753826652
Drugs