Varaico: Literature-Extracted Genetic Variants

Gene:MTHFR
Variant:p.C120Y
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MTHFR

NM_005957.5:p.C120Y

Associated Papers

Clinical and molecular characterization of adult patients with late-onset MTHFR deficiency.

Marelli C et al.

Journal of Inherited Metabolic Disease, 2021

[Remethylation disorders: about two cases].

Brailova M et al.

Annales De Biologie Clinique, 2020

Allosteric inhibition of MTHFR prevents futile SAM cycling and maintains nucleotide pools in one-carbon metabolism.

Bhatia M et al.

The Journal of Biological Chemistry, 2020

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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."