Varaico: Literature-Extracted Genetic Variants

Gene:MMACHC
Variant:p.W157S
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MMACHC

NM_015506.3:p.W157S

Associated Papers

Mutation analysis of genes related to methylmalonic acidemia: identification of eight novel mutations.

Keyfi F et al.

Molecular Biology Reports, 2019

[A case of late-onset cobalamin C disease (methylmalonic aciduria and homocystinuria, cobalamin C type)].

Yamamoto M et al.

Rinsho Shinkeigaku = Clinical Neurology, 2015

Clinical, biochemical, and molecular analysis of combined methylmalonic acidemia and hyperhomocysteinemia (cblC type) in China.

Wang F et al.

Journal of Inherited Metabolic Disease, 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."