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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MMAB

Variant:p.A187ins3

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MMAB

NM_052845.4:p.A187ins3

hg38:chr12:109561064 G>GGCCCGTGCC

Associated Papers

Spectrum and characterization of bi-allelic variants in MMAB causing cblB-type methylmalonic aciduria.

Forny P et al.

Human Genetics, 2022

34796408 (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."