| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
T | 0.700 | GeneticVariation | CLINVAR | Genotype-phenotype correlations in neuronal ceroid lipofuscinosis due to palmitoyl-protein thioesterase deficiency. | 10191107 | 1999 |
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|
T | 0.700 | GeneticVariation | CLINVAR | Molecular genetics of palmitoyl-protein thioesterase deficiency in the U.S. | 9664077 | 1998 |
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|
T | 0.700 | GeneticVariation | CLINVAR | Neuronal ceroid lipofuscinoses: research update. | 11073228 | 2000 |
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|
T | 0.700 | GeneticVariation | CLINVAR | Glycosylation, transport, and complex formation of palmitoyl protein thioesterase 1 (PPT1)--distinct characteristics in neurons. | 17565660 | 2007 |
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|
T | 0.700 | GeneticVariation | CLINVAR | Biochemical analysis of mutations in palmitoyl-protein thioesterase causing infantile and late-onset forms of neuronal ceroid lipofuscinosis. | 11440996 | 2001 |