Source: ALL
Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
---|---|---|---|---|---|---|---|---|---|---|
|
CCATAAATT | 0.700 | CausalMutation | CLINVAR | [Mutation analysis of the methylmalonyl-CoA mutase gene in ten Mexican patients with methylmalonic acidemia]. | 23045948 | 2012 |
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|
CCATAAATT | 0.700 | CausalMutation | CLINVAR | Genetic analysis of three genes causing isolated methylmalonic acidemia: identification of 21 novel allelic variants. | 15781192 | 2005 |