Varaico: Literature-Extracted Genetic Variants

Gene:MMACHC
Variant:p.L193fs
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MMACHC

NM_015506.3:p.L193fs

Associated Papers

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

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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."