Source: UNIPROT ×
Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
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0.800 | GeneticVariation | UNIPROT | TWINKLE gene mutation: report of a French family with an autosomal dominant progressive external ophthalmoplegia and literature review. | 20880070 | 2011 |
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0.800 | GeneticVariation | UNIPROT | TWINKLE gene mutation: report of a French family with an autosomal dominant progressive external ophthalmoplegia and literature review. | 20880070 | 2011 |
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|
0.800 | GeneticVariation | UNIPROT | TWINKLE gene mutation: report of a French family with an autosomal dominant progressive external ophthalmoplegia and literature review. | 20880070 | 2011 |
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|
0.800 | GeneticVariation | UNIPROT | TWINKLE gene mutation: report of a French family with an autosomal dominant progressive external ophthalmoplegia and literature review. | 20880070 | 2011 |
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|
0.800 | GeneticVariation | UNIPROT | TWINKLE gene mutation: report of a French family with an autosomal dominant progressive external ophthalmoplegia and literature review. | 20880070 | 2011 |
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|
0.800 | GeneticVariation | UNIPROT | TWINKLE gene mutation: report of a French family with an autosomal dominant progressive external ophthalmoplegia and literature review. | 20880070 | 2011 |
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|
0.800 | GeneticVariation | UNIPROT | TWINKLE gene mutation: report of a French family with an autosomal dominant progressive external ophthalmoplegia and literature review. | 20880070 | 2011 |
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|
0.800 | GeneticVariation | UNIPROT | TWINKLE gene mutation: report of a French family with an autosomal dominant progressive external ophthalmoplegia and literature review. | 20880070 | 2011 |
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|
0.800 | GeneticVariation | UNIPROT | TWINKLE gene mutation: report of a French family with an autosomal dominant progressive external ophthalmoplegia and literature review. | 20880070 | 2011 |
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|
0.800 | GeneticVariation | UNIPROT | The clinical, histochemical, and molecular spectrum of PEO1 (Twinkle)-linked adPEO. | 20479361 | 2010 |
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|
0.800 | GeneticVariation | UNIPROT | The clinical, histochemical, and molecular spectrum of PEO1 (Twinkle)-linked adPEO. | 20479361 | 2010 |
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|
0.800 | GeneticVariation | UNIPROT | The clinical, histochemical, and molecular spectrum of PEO1 (Twinkle)-linked adPEO. | 20479361 | 2010 |
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|
0.800 | GeneticVariation | UNIPROT | The clinical, histochemical, and molecular spectrum of PEO1 (Twinkle)-linked adPEO. | 20479361 | 2010 |
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|
0.800 | GeneticVariation | UNIPROT | The clinical, histochemical, and molecular spectrum of PEO1 (Twinkle)-linked adPEO. | 20479361 | 2010 |
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|
0.800 | GeneticVariation | UNIPROT | The clinical, histochemical, and molecular spectrum of PEO1 (Twinkle)-linked adPEO. | 20479361 | 2010 |
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|
0.800 | GeneticVariation | UNIPROT | The clinical, histochemical, and molecular spectrum of PEO1 (Twinkle)-linked adPEO. | 20479361 | 2010 |
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|
0.800 | GeneticVariation | UNIPROT | The clinical, histochemical, and molecular spectrum of PEO1 (Twinkle)-linked adPEO. | 20479361 | 2010 |
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|
0.800 | GeneticVariation | UNIPROT | The clinical, histochemical, and molecular spectrum of PEO1 (Twinkle)-linked adPEO. | 20479361 | 2010 |
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|
0.800 | GeneticVariation | UNIPROT | Finding twinkle in the eyes of a 71-year-old lady: a case report and review of the genotypic and phenotypic spectrum of TWINKLE-related dominant disease. | 19353676 | 2009 |
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|
0.800 | GeneticVariation | UNIPROT | Molecular analysis in a family presenting with a mild form of late-onset autosomal dominant chronic progressive external ophthalmoplegia. | 19428252 | 2009 |
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|
0.800 | GeneticVariation | UNIPROT | Finding twinkle in the eyes of a 71-year-old lady: a case report and review of the genotypic and phenotypic spectrum of TWINKLE-related dominant disease. | 19353676 | 2009 |
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|
0.800 | GeneticVariation | UNIPROT | Molecular analysis in a family presenting with a mild form of late-onset autosomal dominant chronic progressive external ophthalmoplegia. | 19428252 | 2009 |
||||
|
0.800 | GeneticVariation | UNIPROT | Finding twinkle in the eyes of a 71-year-old lady: a case report and review of the genotypic and phenotypic spectrum of TWINKLE-related dominant disease. | 19353676 | 2009 |
||||
|
0.800 | GeneticVariation | UNIPROT | Molecular analysis in a family presenting with a mild form of late-onset autosomal dominant chronic progressive external ophthalmoplegia. | 19428252 | 2009 |
||||
|
0.800 | GeneticVariation | UNIPROT | Finding twinkle in the eyes of a 71-year-old lady: a case report and review of the genotypic and phenotypic spectrum of TWINKLE-related dominant disease. | 19353676 | 2009 |