Varaico: Literature-Extracted Genetic Variants

Gene:MTHFR
Variant:p.E586K
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MTHFR

NM_005957.5:p.E586K

Associated Papers

Classification of domains in predicted structures of the human proteome.

Schaeffer RD et al.

Proceedings of the National Academy of Sciences of the United States of America, 2023

36917664 (PubMed )
Supplement: pnas.2214069120.sd02.xlsx › Dataset_S2

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

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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."