Annotation Detail
Information
- Associated Genes
- MTR
- Associated Variants
-
MTR MUTATION
MTR MUTATION - Associated Disease
- Methylcobalamin Deficiency, CblG Type
- Source Database
- DisGeNET
- Description
- Human methionine synthase: cDNA cloning and identification of mutations in patients of the cblG complementation group of folate/cobalamin disorders.
- Pubmed
- 8968737
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.48
- Year of publication
- 1996
Drugs