Varaico: Literature-Extracted Genetic Variants

Gene:MMACHC
Variant:p.E33delFs
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MMACHC

NM_015506.3:p.E33delFs

Associated Papers

Characteristics, differential diagnosis, individualized treatment, and prevention of hyperhomocysteinemia in newborns.

Li YY et al.

European Journal of Medical Genetics, 2023

Mutation spectrum of MMACHC in Chinese patients with combined methylmalonic aciduria and homocystinuria.

Liu MY et al.

Journal of Human Genetics, 2010

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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."