Associated Papers
A Glance into MTHFR Deficiency at a Molecular Level.
Savojardo C et al.
International Journal of Molecular Sciences, 2021
Shifting landscapes of human MTHFR missense-variant effects.
Weile J et al.
American Journal of Human Genetics, 2021
34214447 (PubMed )
Supplement: mmc4.xlsx › patients_from_literature
Mutation Update and Review of Severe Methylenetetrahydrofolate Reductase Deficiency.
Froese DS et al.
Human Mutation, 2016
Severe scoliosis in a patient with severe methylenetetrahydrofolate reductase deficiency.
Munoz T et al.
Brain & Development, 2015
Molecular characterization of five patients with homocystinuria due to severe methylenetetrahydrofolate reductase deficiency.
Urreizti R et al.
Clinical Genetics, 2010
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