Variant: rs80338686 

    present in Gene: BTD
    present in Chromosome: 3
    Position on Chromosome: 15645468
    Alleles of this Variant: C/A;T

rs80338686 in BTD gene and Biotinidase Deficiency PMID 26810761 2016 Forty-eight novel mutations causing biotinidase deficiency.

PMID 9099842 1997 Arg538 to Cys mutation in a CpG dinucleotide of the human biotinidase gene is the second most common cause of profound biotinidase deficiency in symptomatic children.

PMID 27207447 2017 Biotinidase deficiency mimicking neuromyelitis optica beginning at the age of 4: A treatable disease.

PMID 10206677 1998 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.

PMID 9654207 1998 Partial biotinidase deficiency is usually due to the D444H mutation in the biotinidase gene.

PMID 22475884 2012 Good laboratory practices for biochemical genetic testing and newborn screening for inherited metabolic disorders.

PMID 22698809 2012 Increased incidence of profound biotinidase deficiency among Hispanic newborns in California.

PMID 27657684 2017 Successful outcomes of older adolescents and adults with profound biotinidase deficiency identified by newborn screening.

PMID 9396567 1997 Mutations in the human biotinidase gene that cause profound biotinidase deficiency in symptomatic children: molecular, biochemical, and clinical analysis.

PMID 22378278 2012 Clinical utility gene card for: biotinidase deficiency.

rs80338686 in BTD gene and Dysmorphic features PMID 22241090 2012 "Biotinidase deficiency: ""if you have to have an inherited metabolic disease, this is the one to have""."

PMID 13680408 2003 A case of partial biotinidase deficiency associated with autism.

PMID 26577040 2016 Clinical utility gene card for: Biotinidase deficiency-update 2015.

PMID 22698809 2012 Increased incidence of profound biotinidase deficiency among Hispanic newborns in California.

PMID 11668630 2001 Mutations in BTD causing biotinidase deficiency.

PMID 27657684 2017 Successful outcomes of older adolescents and adults with profound biotinidase deficiency identified by newborn screening.

PMID 9654207 1998 Partial biotinidase deficiency is usually due to the D444H mutation in the biotinidase gene.

PMID 17382128 2007 Hearing loss in biotinidase deficiency: genotype-phenotype correlation.

PMID 27014582 2016 First microdeletion involving only the biotinidase gene that can cause biotinidase deficiency: A lesson for clinical practice.

PMID 26810761 2016 Forty-eight novel mutations causing biotinidase deficiency.

rs80338686 in BTD gene and Muscle hypotonia PMID 26810761 2016 Forty-eight novel mutations causing biotinidase deficiency.

PMID 22698809 2012 Increased incidence of profound biotinidase deficiency among Hispanic newborns in California.

PMID 17382128 2007 Hearing loss in biotinidase deficiency: genotype-phenotype correlation.

PMID 9654207 1998 Partial biotinidase deficiency is usually due to the D444H mutation in the biotinidase gene.

PMID 27657684 2017 Successful outcomes of older adolescents and adults with profound biotinidase deficiency identified by newborn screening.

PMID 27014582 2016 First microdeletion involving only the biotinidase gene that can cause biotinidase deficiency: A lesson for clinical practice.

PMID 11668630 2001 Mutations in BTD causing biotinidase deficiency.

PMID 13680408 2003 A case of partial biotinidase deficiency associated with autism.

PMID 26577040 2016 Clinical utility gene card for: Biotinidase deficiency-update 2015.

PMID 22241090 2012 "Biotinidase deficiency: ""if you have to have an inherited metabolic disease, this is the one to have""."