Varaico: Literature-Extracted Genetic Variants

Gene:ACAA1
Variant:p.Q351_A352Splc
Back to variants list

ACAA1

NM_001607.4:p.Q351_A352Splc

Associated Papers

A common mutation, R208X, identified in Vietnamese patients with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency.

Fukao T et al.

Molecular Genetics and Metabolism, 2010

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."