Varaico: Literature-Extracted Genetic Variants

Gene:ACOT4
Variant:p.A187D
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ACOT4

NM_152331.4:p.A187D

Associated Papers

An ACOT4 Multi-Nucleotide Variant Is Associated with Cardiovascular Risk in Norfolk Island and UK Biobank Cohorts.

Meyjes-Brown JWI et al.

Genes, 2026

Genomic, transcriptomic, and metabolomic profiles of hiPSC-derived dopamine neurons from clinically discordant brothers with identical PRKN deletions.

Cukier HN et al.

Npj Parkinson's Disease, 2022

35768426 (PubMed )
Supplement: 41531_2022_346_MOESM2_ESM.xlsx › SupTab1

Integration of metabolomics, genomics, and immune phenotypes reveals the causal roles of metabolites in disease.

Chu X et al.

Genome Biology, 2021

ETNK1 mutations induce a mutator phenotype that can be reverted with phosphoethanolamine.

Fontana D et al.

Nature Communications, 2020

33230096 (PubMed )
Supplement: 41467_2020_19721_MOESM12_ESM.xlsx › Sheet1

Multi-omics analysis defines core genomic alterations in pheochromocytomas and paragangliomas.

Castro-Vega LJ et al.

Nature Communications, 2015

25625332 (PubMed )
Supplement: ncomms7044-s3.xlsx › Supplementary_Data_2
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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."