Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:HMGCS1

Variant:p.A333P

Back to variants list

HMGCS1

NM_001098272.3:p.A333P

hg38:chr5:43294770 C>G

Associated Papers

Recent advances in understanding beta-ketothiolase (mitochondrial acetoacetyl-CoA thiolase, T2) deficiency.

Fukao T et al.

Journal of Human Genetics, 2019

30393371 (PubMed )

Ketone body metabolism and its defects.

Fukao T et al.

Journal of Inherited Metabolic Disease, 2014

24706027 (PubMed )

Select a paper to view details

UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."