| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
A | 0.700 | GeneticVariation | CLINVAR | Twenty-seven mutations with three novel pathologenic variants causing biotinidase deficiency: a report of 203 patients from the southeastern part of Turkey. | 29353266 | 2018 |
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|
A | 0.700 | GeneticVariation | CLINVAR | Mutations in BTD gene causing biotinidase deficiency: a regional report. | 25423671 | 2015 |
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|
A | 0.700 | GeneticVariation | CLINVAR | Detection of biotinidase gene mutations in Turkish patients ascertained by newborn and family screening. | 25754625 | 2015 |
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|
A | 0.700 | GeneticVariation | CLINVAR | Expanding the comprehensive national neonatal screening programme in the United Arab Emirates from 1995 to 2011. | 24932929 | 2014 |
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|
A | 0.700 | GeneticVariation | CLINVAR | Mutation Spectrum and Birth Prevalence of Inborn Errors of Metabolism among Emiratis: A study from Tawam Hospital Metabolic Center, United Arab Emirates. | 24516753 | 2014 |
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|
A | 0.700 | CausalMutation | CLINVAR | High incidence of partial biotinidase deficiency cases in newborns of Greek origin. | 23644139 | 2013 |
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|
A | 0.700 | GeneticVariation | CLINVAR | High incidence of partial biotinidase deficiency cases in newborns of Greek origin. | 23644139 | 2013 |
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|
A | 0.700 | GeneticVariation | CLINVAR | Identification of mutations underlying 20 inborn errors of metabolism in the United Arab Emirates population. | 22106832 | 2012 |
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|
A | 0.700 | CausalMutation | CLINVAR | Mutational analysis for biotinidase deficiency of a Greek patients' cohort ascertained through expanded newborn screening. | 22011816 | 2011 |
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|
A | 0.700 | GeneticVariation | CLINVAR | Novel mutations cause biotinidase deficiency in Turkish children. | 10801053 | 2000 |
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|
A | 0.700 | CausalMutation | CLINVAR | Novel mutations cause biotinidase deficiency in Turkish children. | 10801053 | 2000 |