Varaico: Literature-Extracted Genetic Variants

Gene:MCCC1
Variant:p.R254Splc
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MCCC1

NM_020166.5:p.R254Splc

Associated Papers

[Clinical and genetic features of children with 3-methylcrotonyl-coenzyme A carboxylase deficiency: an analysis of six cases].

Zhang LM et al.

Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 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."