Varaico: Literature-Extracted Genetic Variants

Gene:MTHFR
Variant:p.P251L
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MTHFR

NM_005957.5:p.P251L

Associated Papers

A Glance into MTHFR Deficiency at a Molecular Level.

Savojardo C et al.

International Journal of Molecular Sciences, 2021

Mutation Update and Review of Severe Methylenetetrahydrofolate Reductase Deficiency.

Froese DS et al.

Human Mutation, 2016

[Molecular genetics of MTHFR: polymorphisms are not all benign].

Leclerc D et al.

Medecine Sciences : M/s, 2007

The structure and properties of methylenetetrahydrofolate reductase from Escherichia coli suggest how folate ameliorates human hyperhomocysteinemia.

Guenther BD et al.

Nature Structural Biology, 1999

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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."