Varaico: Literature-Extracted Genetic Variants

Gene:MMACHC
Variant:p.P226L
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MMACHC

NM_015506.3:p.P226L

Associated Papers

Decreased cortical Nrf2 gene expression in autism and its relationship to thiol and cobalamin status.

Schrier MS et al.

Biochimie, 2022

Spectrum of MMACHC mutations in Italian and Portuguese patients with combined methylmalonic aciduria and homocystinuria, cblC type.

Nogueira C et al.

Molecular Genetics and Metabolism, 2008

Late-onset thrombocytic microangiopathy caused by cblC disease: association with a factor H mutation.

Guigonis V et al.

American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation, 2005

Update on cobalamin, folate, and homocysteine.

Carmel R et al.

Hematology. American Society of Hematology. Education Program, 2003

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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."