Varaico: Literature-Extracted Genetic Variants

Gene:ACADL
Variant:p.G388R
Back to variants list

ACADL

NM_001608.4:p.G388R

Associated Papers

Expanded Newborn Screening for Inborn Errors of Metabolism by Tandem Mass Spectrometry in Suzhou, China: Disease Spectrum, Prevalence, Genetic Characteristics in a Chinese Population.

Wang T et al.

Frontiers in Genetics, 2019

Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency: urinary organic acid profiles and expanded spectrum of mutations.

Pitt JJ et al.

Journal of Inherited Metabolic Disease, 2015

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."