Varaico: Literature-Extracted Genetic Variants

Gene:HMGCL
Variant:p.N46insFs
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HMGCL

NM_000191.3:p.N46insFs

Associated Papers

Molecular genetics of HMG-CoA lyase deficiency.

Pié J et al.

Molecular Genetics and Metabolism, 2007

The E37X is a common HMGCL mutation in Portuguese patients with 3-hydroxy-3-methylglutaric CoA lyase deficiency.

Cardoso ML et al.

Molecular Genetics and Metabolism, 2004

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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."