Varaico: Literature-Extracted Genetic Variants

Gene:ACSL4
Variant:p.T553A
Back to variants list

ACSL4

NM_022977.3:p.T553A

Associated Papers

Report of the first patient with a homozygous OTUD7A variant responsible for epileptic encephalopathy and related proteasome dysfunction.

Garret P et al.

Clinical Genetics, 2020

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."