| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
G | 0.700 | CausalMutation | CLINVAR | Localization of wild-type and mutant neuronal ceroid lipofuscinosis CLN8 proteins in non-neuronal and neuronal cells. | 15160397 | 2004 |
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|
G | 0.700 | CausalMutation | CLINVAR | The neuronal ceroid lipofuscinosis CLN8 membrane protein is a resident of the endoplasmic reticulum. | 10861296 | 2000 |