Varaico: Literature-Extracted Genetic Variants

Gene:MTHFR
Variant:p.Y374*
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MTHFR

NM_005957.5:p.Y374*

Associated Papers

Early treatment using betaine and methionine for a neonate with MTHFR deficiency.

Nishimoto E et al.

Pediatrics International : Official Journal of the Japan Pediatric Society, 2019

A Novel Homozygous Non-sense Mutation in the Catalytic Domain of MTHFR Causes Severe 5,10-Methylenetetrahydrofolate Reductase Deficiency.

Massadeh S et al.

Frontiers in Neurology, 2019

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

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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."