Varaico: Literature-Extracted Genetic Variants

Gene:MMACHC
Variant:p.Q98*
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MMACHC

NM_015506.3:p.Q98*

Associated Papers

Experimental insights into MMACHC variants using a novel minigene system.

Dong Y et al.

Molecular Genetics and Metabolism, 2025

Inherited Retinal Dystrophy in Southeastern United States: Characterization of South Carolina Patients and Comparative Literature Review.

Griffith J et al.

Genes, 2022

36011402 (PubMed )
Supplement: genes-13-01490-s001.zip › Table_S1.xlsx › Supplemental_Table_S1
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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."