Varaico: Literature-Extracted Genetic Variants

Gene:MCC
Variant:p.V363D
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MCC

NM_001085377.2:p.V363D

Associated Papers

Clinical and genetic analysis of four Chinese patients with holocarboxylase synthetase deficiency and metabolic acidosis.

Zheng Z et al.

Orphanet Journal of Rare Diseases, 2025

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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."