Source: UNIPROT ×
| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
0.700 | GeneticVariation | UNIPROT | Novel mutations in SERAC1 gene in two Indian patients presenting with dystonia and intellectual disability. | 28778788 | 2018 |
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|
0.700 | GeneticVariation | UNIPROT | Novel mutations in SERAC1 gene in two Indian patients presenting with dystonia and intellectual disability. | 28778788 | 2018 |
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|
0.700 | GeneticVariation | UNIPROT | Exome sequencing identifies a new mutation in SERAC1 in a patient with 3-methylglutaconic aciduria. | 23707711 | 2014 |
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|
0.700 | GeneticVariation | UNIPROT | Exome sequencing identifies a new mutation in SERAC1 in a patient with 3-methylglutaconic aciduria. | 23707711 | 2014 |
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|
0.700 | GeneticVariation | UNIPROT | Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness. | 22683713 | 2012 |
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|
0.700 | GeneticVariation | UNIPROT | Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness. | 22683713 | 2012 |