Varaico: Literature-Extracted Genetic Variants

Gene:MTHFR
Variant:p.S10C
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MTHFR

NM_005957.5:p.S10C

Associated Papers

Mutation Update and Review of Severe Methylenetetrahydrofolate Reductase Deficiency.

Froese DS et al.

Human Mutation, 2016

Relations between molecular and biological abnormalities in 11 families from siblings affected with methylenetetrahydrofolate reductase deficiency.

Tonetti C et al.

European Journal of Pediatrics, 2003

Impact of new mutations in the methylenetetrahydrofolate reductase gene assessed on biochemical phenotypes: a familial study.

Tonetti C et al.

Journal of Inherited Metabolic Disease, 2001

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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."