Varaico: Literature-Extracted Genetic Variants

Gene:APOA1
Variant:p.R173S
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APOA1

NM_000039.3:p.R173S

Associated Papers

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

Geller AS et al.

Journal of Lipid Research, 2018

Structural Biology Helps Interpret Variants of Uncertain Significance in Genes Causing Endocrine and Metabolic Disorders.

Ittisoponpisan S et al.

Journal of the Endocrine Society, 2018

30019023 (PubMed )
Supplement: js.2018-00077.sd2.xls › Sheet1

iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Wang M et al.

Scientific Reports, 2016

27527004 (PubMed )
Supplement: srep31321-s3.xls › NovelVar

Structural and functional consequences of the Milano mutation (R173C) in human apolipoprotein A-I.

Alexander ET et al.

Journal of Lipid Research, 2009

Case report: A novel apolipoprotein A-I missense mutation apoA-I (Arg149Ser)Boston associated with decreased lecithin-cholesterol acyltransferase activation and cellular cholesterol efflux.

Anthanont P et al.

Journal of Clinical Lipidology, 0

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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."