Varaico: Literature-Extracted Genetic Variants

Gene:LCAT
Variant:p.R171W
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LCAT

NM_000229.2:p.R171W

Associated Papers

A systematic review of the natural history and biomarkers of primary lecithin:cholesterol acyltransferase deficiency.

Vitali C et al.

Journal of Lipid Research, 2022

35065092 (PubMed )
Supplement: mmc1.pdf

LCAT deficiency: a systematic review with the clinical and genetic description of Mexican kindred.

Mehta R et al.

Lipids in Health and Disease, 2021

Genetic-epidemiological evidence on genes associated with HDL cholesterol levels: a systematic in-depth review.

Boes E et al.

Experimental Gerontology, 2009

Novel P143L polymorphism of the LCAT gene is associated with dyslipidemia in Chinese patients who have coronary atherosclerotic heart disease.

Zhang K et al.

Biochemical and Biophysical Research Communications, 2004

Effects of lecithin: cholesterol acyltransferase genotypes, enzyme levels, and activity on high-density lipoprotein levels.

Agirbasli D 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."