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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MMACHC

Variant:p.F252insFs

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MMACHC

NM_015506.3:p.F252insFs

hg38:chr1:45509121 T>TA

Associated Papers

Long-term follow-up of Chinese patients with methylmalonic acidemia of the cblC and mut subtypes.

Hao L et al.

Pediatric Research, 2025

39306609 (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."