Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397514418
rs397514418
BTD
T 0.700 GeneticVariation CLINVAR Biotinidase deficiency: Spectrum of molecular, enzymatic and clinical information from newborn screening Ontario, Canada (2007-2014). 26361991

2015
dbSNP: rs397514418
rs397514418
BTD
T 0.700 GeneticVariation CLINVAR Detection of biotinidase gene mutations in Turkish patients ascertained by newborn and family screening. 25754625

2015
dbSNP: rs397514418
rs397514418
BTD
T 0.700 GeneticVariation CLINVAR Biotinidase deficiency presenting as recurrent myelopathy in a 7-year-old boy and a review of the literature. 21907891

2011
dbSNP: rs397514418
rs397514418
BTD
T 0.700 GeneticVariation CLINVAR Analysis of mutations causing biotinidase deficiency. 20556795

2010
dbSNP: rs397514418
rs397514418
BTD
T 0.700 CausalMutation CLINVAR Profound biotinidase deficiency in a child with predominantly spinal cord disease. 18645204

2008
dbSNP: rs397514418
rs397514418
BTD
T 0.700 GeneticVariation CLINVAR Profound biotinidase deficiency in a child with predominantly spinal cord disease. 18645204

2008