Varaico: Literature-Extracted Genetic Variants

Gene:MMACHC
Variant:p.D77fs
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MMACHC

NM_015506.3:p.D77fs

Associated Papers

Correlation between toxic organic acid fluctuations and neurodevelopment in patients with methylmalonic acidemia.

Ling IC et al.

Orphanet Journal of Rare Diseases, 2025

Screening of 1.17 million newborns for inborn errors of metabolism using tandem mass spectrometry in Shanghai, China: A 19-year report.

Hao L et al.

Molecular Genetics and Metabolism, 2024

Newborn Screening for Methylmalonic Acidemia in a Chinese Population: Molecular Genetic Confirmation and Genotype Phenotype Correlations.

Zhou W et al.

Frontiers in Genetics, 2018

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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."