| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
A | 0.700 | CausalMutation | CLINVAR | Glycosylation, transport, and complex formation of palmitoyl protein thioesterase 1 (PPT1)--distinct characteristics in neurons. | 17565660 | 2007 |
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|
A | 0.700 | CausalMutation | CLINVAR | New mutations in the neuronal ceroid lipofuscinosis genes. | 11589012 | 2001 |
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|
A | 0.700 | CausalMutation | CLINVAR | Detection of eight novel palmitoyl protein thioesterase (PPT) mutations underlying infantile neuronal ceroid lipofuscinosis (INCL;CLN1). | 10679943 | 2000 |