Varaico: Literature-Extracted Genetic Variants

Gene:HMGCL
Variant:p.E199V
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HMGCL

NM_000191.3:p.E199V

Associated Papers

Coupled brain and urine spectroscopy - in vivo metabolomic characterization of HMG-CoA lyase deficiency in 5 patients.

Roland D et al.

Molecular Genetics and Metabolism, 2017

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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."