SNP information rs104893688
Normal allele: CC
Polymorphism increases the risk of biotin (vitamin B7) deficiency in children.
Polymorphism rs104893688 is related to topics like this:
Biotin, also known as vitamin B7, vitamin H, or coenzyme R, is a water-soluble B-complex vitamin....
Research and publications:
9654207 Partial biotinidase deficiency is usually due to the D444H mutation in the biotinidase gene.
10801053 Novel mutations cause biotinidase deficiency in Turkish children.
15776412 Biotinidase deficiency: novel mutations and their biochemical and clinical correlates.
20224900 Profound biotinidase deficiency: a rare disease among native Swedes.
22698809 Increased incidence of profound biotinidase deficiency among Hispanic newborns in California.
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A vast group of genes responsible for the production of potassium channels includes the KCNT1 gene....