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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MMACHC

Variant:p.E217V

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MMACHC

NM_015506.3:p.E217V

hg38:chr1:45509016 A>T

Associated Papers

Experimental insights into MMACHC variants using a novel minigene system.

Dong Y et al.

Molecular Genetics and Metabolism, 2025

41275642 (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."