Varaico: Literature-Extracted Genetic Variants

Gene:HMGCL
Variant:p.D204A
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HMGCL

NM_000191.3:p.D204A

Associated Papers

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

The crystal structure of dienoyl-CoA isomerase at 1.5 A resolution reveals the importance of aspartate and glutamate sidechains for catalysis.

Modis Y et al.

Structure (london, England : 1993), 1998

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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."