Varaico: Literature-Extracted Genetic Variants

Gene:MMACHC
Variant:p.H122insFs
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MMACHC

NM_015506.3:p.H122insFs

Associated Papers

Rapid screening of MMACHC gene mutations by high-resolution melting curve analysis.

Wang C et al.

Molecular Genetics & Genomic Medicine, 2020

Mutation spectrum of MMACHC in Chinese pediatric patients with cobalamin C disease: A case series and literature review.

Wang C et al.

European Journal of Medical Genetics, 2019

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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."