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SNP information rs144637717

RS144637717

Normal allele: TT

Deficiency of cerebral transport of folic acid.

Polymorphism rs144637717 is related to topics like this:

Folate and mthfr

MTHFR is an enzyme crucial for converting folic acid into an active form known as L-methylfolate,...

Research and publications:

  25741868   Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

  23757202   Free the data: one laboratory's approach to knowledge-based classification of genomic variants and preparation for integration of genomic data into EMR.

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