Varaico: Literature-Extracted Genetic Variants

Gene:C5
Variant:p.E400G
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C5

NM_001735.3:p.E400G

Associated Papers

Genetic mutation profile of isovaleric acidemia patients in Taiwan.

Lin WD et al.

Molecular Genetics and Metabolism, 2007

Isovaleric acidemia diagnosed promptly by tandem mass spectrometry: report of one case.

Wei CC et al.

Acta Paediatrica Taiwanica = Taiwan Er Ke Yi Xue Hui Za Zhi, 0

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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."