Varaico: Literature-Extracted Genetic Variants

Gene:MMADHC
Variant:p.H251Y
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MMADHC

NM_015702.3:p.H251Y

Associated Papers

Five novel SUCLG1 mutations in three Chinese patients with succinate-CoA ligase deficiency noticed by mild methylmalonic aciduria.

Liu Y et al.

Brain & Development, 2016

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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."