Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
---|---|---|---|---|---|---|---|---|---|---|
|
0.710 | GeneticVariation | BEFREE | Protracted course of juvenile ceroid lipofuscinosis associated with a novel CLN3 mutation (p.Y199X). | 19489875 | 2009 |
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|
T | 0.710 | CausalMutation | CLINVAR |