Varaico: Literature-Extracted Genetic Variants

Gene:HLCS
Variant:p.Q332H
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HLCS

NM_000411.8:p.Q332H

Associated Papers

Clinical, biochemical, and genetic analysis of a Chinese Han pedigree with holocarboxylase synthetase deficiency: a case report.

Zheng Z et al.

Bmc Medical Genetics, 2020

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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."