Varaico: Literature-Extracted Genetic Variants

Gene:MTHFR
Variant:p.R344M
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MTHFR

NM_005957.5:p.R344M

Associated Papers

Reversible leukoencephalopathy and cerebral atrophy in homocystinuria due to MTHFR deficiency: A treatable metabolic disorder.

Padmanabha H et al.

Journal of Inherited Metabolic Disease, 2021

Clinical, Biochemical, Radiological, and Genetic Profile of Patients with Homocysteine Remethylation Pathway Defect and Spastic Paraplegia.

Padmanabha H et al.

Annals of Indian Academy of Neurology, 0

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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."