| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
T | 0.700 | CausalMutation | CLINVAR | Lysoplex: An efficient toolkit to detect DNA sequence variations in the autophagy-lysosomal pathway. | 26075876 | 2015 |
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|
T | 0.700 | CausalMutation | CLINVAR | Mutational analysis of the defective protease in classic late-infantile neuronal ceroid lipofuscinosis, a neurodegenerative lysosomal storage disorder. | 10330339 | 1999 |
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|
T | 0.700 | CausalMutation | CLINVAR | Two common mutations in the CLN2 gene underlie late infantile neuronal ceroid lipofuscinosis. | 9788728 | 1998 |