Varaico: Literature-Extracted Genetic Variants

Gene:MMAA
Variant:p.G147A
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MMAA

NM_172250.3:p.G147A

Associated Papers

Combined methylmalonic acidemia and homocystinuria, cblC type. I. Clinical presentations, diagnosis and management.

Carrillo-Carrasco N et al.

Journal of Inherited Metabolic Disease, 2012

Combined methylmalonic aciduria and homocystinuria (cblC): phenotype-genotype correlations and ethnic-specific observations.

Morel CF et al.

Molecular Genetics and Metabolism, 2006

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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."