Varaico: Literature-Extracted Genetic Variants

Gene:MMUT
Variant:p.A374V
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MMUT

NM_000255.4:p.A374V

Associated Papers

Identification and characterization of mutations in patients with holocarboxylase synthetase deficiency.

Aoki Y et al.

Human Genetics, 1999

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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."