Varaico: Literature-Extracted Genetic Variants

Gene:HMGCL
Variant:p.D42N
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HMGCL

NM_000191.3:p.D42N

Associated Papers

Incidence of 3-hydroxy-3-methylglutaryl-coenzyme A lyase (HL) deficiency in Brazil, South America.

Vargas CR et al.

Journal of Inherited Metabolic Disease, 2008

Crystal structure of human 3-hydroxy-3-methylglutaryl-CoA Lyase: insights into catalysis and the molecular basis for hydroxymethylglutaric aciduria.

Fu Z et al.

The Journal of Biological Chemistry, 2006

Investigation of conserved acidic residues in 3-hydroxy-3-methylglutaryl-CoA lyase: implications for human disease and for functional roles in a family of related proteins.

Tuinstra RL et al.

The Journal of Biological Chemistry, 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."