Varaico: Literature-Extracted Genetic Variants

Gene:HMGCL
Variant:p.H233D
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HMGCL

NM_000191.3:p.H233D

Associated Papers

Modeling of a mutation responsible for human 3-hydroxy-3-methylglutaryl-CoA lyase deficiency implicates histidine 233 as an active site residue.

Roberts JR et al.

The Journal of Biological Chemistry, 1996

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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."