Varaico: Literature-Extracted Genetic Variants

Gene:MTHFR
Variant:p.R51P
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MTHFR

NM_005957.5:p.R51P

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

Outcomes of four patients with homocysteine remethylation disorders detected by newborn screening.

Wong D et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2016

Life-threatening methylenetetrahydrofolate reductase (MTHFR) deficiency with extremely early onset: characterization of two novel mutations in compound heterozygous patients.

Forges T et al.

Molecular Genetics and Metabolism, 2010

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

Leclerc D et al.

Medecine Sciences : M/s, 2007

Functional characterization of human methylenetetrahydrofolate reductase in Saccharomyces cerevisiae.

Shan X et al.

The Journal of Biological Chemistry, 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."