Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
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0.020 | GeneticVariation | BEFREE | This report confirms that compound heterozygous patients with FA who have a GAA expansion and a G130V mutation may present with an ataxic phenotype and that intrafamilial phenotypic variability in these pedigrees can occur. | 11843702 | 2002 |
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0.020 | GeneticVariation | BEFREE | In agreement, the iron metallochaperone activity of the Friedreich's ataxia mutants was affected: some mutants precipitate upon iron binding (I154F and W155R) and others have a lower binding stoichiometry (G130V and D122Y). | 18537827 | 2008 |
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0.010 | GeneticVariation | BEFREE | Molecular testing for Friedreich ataxia showed significantly expanded GAA repeats at 799 (abnormal >67 GAA repeats) on one allele and a heterozygous disease causing mutation, c.317T>C (p.Leu106Ser) on the other allele, confirming the diagnosis. | 25149925 | 2014 |
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0.010 | GeneticVariation | BEFREE | In agreement, the iron metallochaperone activity of the Friedreich's ataxia mutants was affected: some mutants precipitate upon iron binding (I154F and W155R) and others have a lower binding stoichiometry (G130V and D122Y). | 18537827 | 2008 |
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|
0.010 | GeneticVariation | BEFREE | Molecular testing for Friedreich ataxia showed significantly expanded GAA repeats at 799 (abnormal >67 GAA repeats) on one allele and a heterozygous disease causing mutation, c.317T>C (p.Leu106Ser) on the other allele, confirming the diagnosis. | 25149925 | 2014 |
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|
0.010 | GeneticVariation | BEFREE | In agreement, the iron metallochaperone activity of the Friedreich's ataxia mutants was affected: some mutants precipitate upon iron binding (I154F and W155R) and others have a lower binding stoichiometry (G130V and D122Y). | 18537827 | 2008 |
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|
0.010 | GeneticVariation | BEFREE | In agreement, the iron metallochaperone activity of the Friedreich's ataxia mutants was affected: some mutants precipitate upon iron binding (I154F and W155R) and others have a lower binding stoichiometry (G130V and D122Y). | 18537827 | 2008 |
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0.010 | GeneticVariation | BEFREE | Atypical Friedreich ataxia in patients with FXN p.R165P point mutation or comorbid hemochromatosis. | 24816001 | 2014 |