rs397514395
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Successful outcomes of older adolescents and adults with profound biotinidase deficiency identified by newborn screening.
|
27657684 |
2017 |
rs397514395
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Biotinidase deficiency: clinical and genetic studies of 38 Brazilian patients.
|
25174816 |
2014 |
rs397514395
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Increased incidence of profound biotinidase deficiency among Hispanic newborns in California.
|
22698809 |
2012 |
rs397514395
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Increased incidence of profound biotinidase deficiency among Hispanic newborns in California.
|
22698809 |
2012 |
rs397514395
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
High frequencies of biotinidase (BTD) gene mutations in the Hungarian population.
|
20549359 |
2010 |
rs397514395
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Mutations causing biotinidase deficiency in children ascertained by newborn screening in Western Hungary.
|
17185019 |
2007 |
rs397514395
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Mutations causing biotinidase deficiency in children ascertained by newborn screening in Western Hungary.
|
17185019 |
2007 |
rs397514395
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Seventeen novel mutations that cause profound biotinidase deficiency.
|
12359137 |
2003 |
rs397514395
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Seventeen novel mutations that cause profound biotinidase deficiency.
|
12359137 |
2003 |
rs397514395
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Mutations causing profound biotinidase deficiency in children ascertained by newborn screening in the United States occur at different frequencies than in symptomatic children.
|
10400129 |
1999 |
rs397514395
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Mutations in the human biotinidase gene that cause profound biotinidase deficiency in symptomatic children: molecular, biochemical, and clinical analysis.
|
9396567 |
1997 |
rs397514395
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Mutations in the human biotinidase gene that cause profound biotinidase deficiency in symptomatic children: molecular, biochemical, and clinical analysis.
|
9396567 |
1997 |