Associated Papers
Shifting landscapes of human MTHFR missense-variant effects.
Weile J et al.
American Journal of Human Genetics, 2021
34214447 (PubMed )
Supplement: mmc4.xlsx › 1000_genomes
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
30665703 (PubMed )
Supplement: mmc3.xlsx › data_for_supp2
[Posterior-predominant leukoencephalopathy which was caused by methylenetetrahydrofolate reductase deficiency and successfully treated with folic acid].
Tamura A et al.
Rinsho Shinkeigaku = Clinical Neurology, 2014
An unusual melting curve on a LightCycler due to a new mutation in methylenetetrahydrofolate reductase.
Gilfix BM
Genetic Testing and Molecular Biomarkers, 2009
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