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SNP information rs34885143

RS34885143

Normal allele: GG

Mutations causing biotinidase deficiency and biotin deficiency.

Polymorphism rs34885143 is related to topics like this:

Biotin dna

Biotin, also known as vitamin B7, vitamin H, or coenzyme R, is a water-soluble B-complex vitamin....

Research and publications:

  10400129   Mutations causing profound biotinidase deficiency in children ascertained by newborn screening in the United States occur at different frequencies than in symptomatic children.

  15060693   Newborn screening for biotinidase deficiency in Brazil: biochemical and molecular characterizations.

  15776412   Biotinidase deficiency: novel mutations and their biochemical and clinical correlates.

  18414213   ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007.

Manganese

Manganese, a trace mineral, is vital for various bodily functions, including brain and nervous...

Selenium dna repair

Selenium, an essential trace element for multiple cellular processes, was initially deemed...

KCNT1 potassium sodium-activated channel

A vast group of genes responsible for the production of potassium channels includes the KCNT1 gene....

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