Varaico: Literature-Extracted Genetic Variants

Gene:MTHFR
Variant:p.V218L
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MTHFR

NM_005957.5:p.V218L

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

Molecular characterization of five patients with homocystinuria due to severe methylenetetrahydrofolate reductase deficiency.

Urreizti R et al.

Clinical Genetics, 2010

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."