Annotation Detail
Information
- Associated Genes
- MTRR
- Associated Variants
-
MTRR MUTATION
MTRR MUTATION - Associated Disease
- homocystinuria
- Source Database
- DisGeNET
- Description
- The prevalent c.903+469T>C mutation in MTRR causes the cblE type of homocystinuria by strengthening an SRSF1 binding site in an ESE leading to activation of a pseudoexon.
- Pubmed
- 25878036
- 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
- 1
- Original source reporting the Gene Disease association
- BeFree,CTD_human
- DisGENET score for the Gene Disease association
- 0.121628651232482
Drugs