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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MMACHC

Variant:p.V83insFs

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MMACHC

NM_015506.3:p.V83insFs

hg38:chr1:45507521 G>GT

Associated Papers

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

Liu MY et al.

Journal of Human Genetics, 2010

20631720 (PubMed )

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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."