rs13078881
|
|
C |
0.860 |
CausalMutation |
CLINVAR |
Optic neuropathy due to biotinidase deficiency in a 19-year-old man.
|
24525934 |
2014 |
rs13078881
|
|
C |
0.860 |
CausalMutation |
CLINVAR |
Disease variants in genomes of 44 centenarians.
|
25333069 |
2014 |
rs13078881
|
|
C |
0.860 |
CausalMutation |
CLINVAR |
Pathogenic variants for Mendelian and complex traits in exomes of 6,517 European and African Americans: implications for the return of incidental results.
|
25087612 |
2014 |
rs13078881
|
|
C |
0.860 |
CausalMutation |
CLINVAR |
An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals.
|
22975760 |
2013 |
rs13078881
|
|
C |
0.860 |
CausalMutation |
CLINVAR |
An informatics approach to analyzing the incidentalome.
|
22995991 |
2013 |
rs13078881
|
|
C |
0.860 |
CausalMutation |
CLINVAR |
High incidence of partial biotinidase deficiency cases in newborns of Greek origin.
|
23644139 |
2013 |
rs13078881
|
|
C |
0.860 |
CausalMutation |
CLINVAR |
Carrier testing for severe childhood recessive diseases by next-generation sequencing.
|
21228398 |
2011 |
rs13078881
|
|
C |
0.860 |
CausalMutation |
CLINVAR |
Analysis of mutations causing biotinidase deficiency.
|
20556795 |
2010 |
rs13078881
|
|
C |
0.860 |
CausalMutation |
CLINVAR |
A map of human genome variation from population-scale sequencing.
|
20981092 |
2010 |
rs13078881
|
|
C |
0.860 |
CausalMutation |
CLINVAR |
Technical standards and guidelines for the diagnosis of biotinidase deficiency.
|
20539236 |
2010 |
rs13078881
|
|
C |
0.860 |
CausalMutation |
CLINVAR |
High frequencies of biotinidase (BTD) gene mutations in the Hungarian population.
|
20549359 |
2010 |
rs13078881
|
|
C |
0.860 |
CausalMutation |
CLINVAR |
Biotinidase deficiency: novel mutations and their biochemical and clinical correlates.
|
15776412 |
2005 |
rs13078881
|
|
C |
0.860 |
CausalMutation |
CLINVAR |
Molecular characterisation and neuropsychological outcome of 21 patients with profound biotinidase deficiency detected by newborn screening and family studies.
|
14628140 |
2003 |
rs13078881
|
|
C |
0.860 |
CausalMutation |
CLINVAR |
Real time PCR assays to detect common mutations in the biotinidase gene and application of mutational analysis to newborn screening for biotinidase deficiency.
|
12618081 |
2003 |
rs13078881
|
|
C |
0.860 |
CausalMutation |
CLINVAR |
Two new mutations in children affected by partial biotinidase deficiency ascertained by newborn screening.
|
12227467 |
2002 |
rs13078881
|
|
C |
0.860 |
CausalMutation |
CLINVAR |
Molecular characterisation of 34 patients with biotinidase deficiency ascertained by newborn screening and family investigation.
|
11313766 |
2001 |
rs13078881
|
|
C |
0.860 |
CausalMutation |
CLINVAR |
Novel mutations cause biotinidase deficiency in Turkish children.
|
10801053 |
2000 |
rs13078881
|
|
C |
0.860 |
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 |
rs13078881
|
|
C |
0.860 |
CausalMutation |
CLINVAR |
Double mutation (A171T and D444H) is a common cause of profound biotinidase deficiency in children ascertained by newborn screening the the United States. Mutations in brief no. 128. Online.
|
10206677 |
1998 |
rs13078881
|
|
C |
0.860 |
CausalMutation |
CLINVAR |
Partial biotinidase deficiency is usually due to the D444H mutation in the biotinidase gene.
|
9654207 |
1998 |
rs13078881
|
|
C |
0.860 |
GeneticVariation |
CLINVAR |
|
|
|
rs13073139
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients.
|
28498829 |
2017 |
rs80338685
|
|
C |
0.800 |
CausalMutation |
CLINVAR |
Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients.
|
28498829 |
2017 |
rs80338685
|
|
C |
0.800 |
CausalMutation |
CLINVAR |
Successful outcomes of older adolescents and adults with profound biotinidase deficiency identified by newborn screening.
|
27657684 |
2017 |
rs80338686
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Biotinidase deficiency mimicking neuromyelitis optica beginning at the age of 4: A treatable disease.
|
27207447 |
2017 |