Varaico: Literature-Extracted Genetic Variants

Gene:APOA1
Variant:p.S60A
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APOA1

NM_000039.3:p.S60A

Associated Papers

Whole-exome sequencing reveals damaging gene variants associated with hypoalphalipoproteinemia.

Dong W et al.

Journal of Lipid Research, 2022

Genetic and secondary causes of severe HDL deficiency and cardiovascular disease.

Geller AS et al.

Journal of Lipid Research, 2018

Global genetic diversity of human apolipoproteins and effects on cardiovascular disease risk.

Zhou Y et al.

Journal of Lipid Research, 2018

30076208 (PubMed )
Supplement: 10.1194_P086710_jlr.P086710-4.xlsx › Other_APO_genes

Exome chip meta-analysis identifies novel loci and East Asian-specific coding variants that contribute to lipid levels and coronary artery disease.

Lu X et al.

Nature Genetics, 2017

29083407 (PubMed )
Supplement: NIHMS909133-supplement-2.xlsx › Supplementary_Table_11

Clinical proteome informatics workbench detects pathogenic mutations in hereditary amyloidoses.

Dasari S et al.

Journal of Proteome Research, 2014

24650283 (PubMed )
Supplement: pr4011475_si_001.pdf

Population-based resequencing of APOA1 in 10,330 individuals: spectrum of genetic variation, phenotype, and comparison with extreme phenotype approach.

Haase CL et al.

Plos Genetics, 2012

23209431 (PubMed )
Supplement: pgen.1003063.s004.pdf

Amyloidogenicity and clinical phenotype associated with five novel mutations in apolipoprotein A-I.

Rowczenio D et al.

The American Journal of Pathology, 2011

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