How will you treat a young man with recurrent cryptogenic strokes with no identifiable cause, with MTHFR A1298C homozygous mutation and normal homocysteine level?
Answer from: at Academic Institution
The genetic variant you report seems to be a SNP that, while it has been reported to be statistically associated with various diseases in GWAS studies, is not pathogenic. SNPs that are significant in GWAS studies have very small effect sizes that can be measured when considered in thousands of peopl...