Varaico: Literature-Extracted Genetic Variants

Gene:MTHFD1
Variant:p.T269I
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MTHFD1

NM_005956.4:p.T269I

Associated Papers

Characterization and review of MTHFD1 deficiency: four new patients, cellular delineation and response to folic and folinic acid treatment.

Burda P et al.

Journal of Inherited Metabolic Disease, 2015

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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."