Varaico: Literature-Extracted Genetic Variants

Gene:HMGCL
Variant:p.N46K
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HMGCL

NM_000191.3:p.N46K

Associated Papers

Molecular genetics of HMG-CoA lyase deficiency.

Pié J et al.

Molecular Genetics and Metabolism, 2007

Molecular basis of 3-hydroxy-3-methylglutaric aciduria.

Pie J et al.

Journal of Physiology and Biochemistry, 2003

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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."