Varaico: Literature-Extracted Genetic Variants

Gene:MTHFR
Variant:p.N446_G447del2
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MTHFR

NM_005957.5:p.N446_G447del2

Associated Papers

Mutations in MTHFR and POLG impaired activity of the mitochondrial respiratory chain in 46-year-old twins with spastic paraparesis.

Wiedemann A et al.

Journal of Human Genetics, 2020

Rapidly progressive psychotic symptoms triggered by infection in a patient with methylenetetrahydrofolate reductase deficiency: a case report.

Iida S et al.

Bmc Neurology, 2017

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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."