Varaico: Literature-Extracted Genetic Variants

Gene:MTHFR
Variant:p.E123G
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MTHFR

NM_005957.5:p.E123G

Associated Papers

Genetic variations as molecular diagnostic factors for idiopathic male infertility: current knowledge and future perspectives.

Karimian M et al.

Expert Review of Molecular Diagnostics, 2021

Shifting landscapes of human MTHFR missense-variant effects.

Weile J et al.

American Journal of Human Genetics, 2021

34214447 (PubMed )
Supplement: mmc1.pdf

Structural basis for the regulation of human 5,10-methylenetetrahydrofolate reductase by phosphorylation and S-adenosylmethionine inhibition.

Froese DS et al.

Nature Communications, 2018

Association of the c.-9C>T and c.368A>G transitions in H2BFWT gene with male infertility in an Iranian population.

Rafatmanesh A et al.

Andrologia, 2018

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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."