Varaico: Literature-Extracted Genetic Variants

Gene:HMGCS1
Variant:p.A489delFs
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HMGCS1

NM_001098272.3:p.A489delFs

Associated Papers

Severe clinical manifestation of mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency associated with two novel mutations: a case report.

Liu H et al.

Bmc Pediatrics, 2019

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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."