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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MMUT

Variant:p.I221K

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MMUT

NM_000255.4:p.I221K

hg38:chr6:49457782 A>T

Associated Papers

Integrated multi-omics reveals anaplerotic rewiring in methylmalonyl-CoA mutase deficiency.

Forny P et al.

Nature Metabolism, 2023

36717752 (PubMed )

Supplement: 42255_2022_720_MOESM1_ESM.pdf

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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."