Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ACAT1

Variant:p.D339delFs

Back to variants list

ACAT1

NM_000019.4:p.D339delFs

hg38:chr11:108146211 GAT>G

Associated Papers

Identification of two novel ACAT1 variant associated with beta-ketothiolase deficiency in a 9-month-old boy.

Wang Y et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2022

35850931 (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."