Varaico: Literature-Extracted Genetic Variants

Gene:LCAT
Variant:p.C337Y
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LCAT

NM_000229.2:p.C337Y

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

The Effect of Natural LCAT Mutations on the Biogenesis of HDL.

Fotakis P et al.

Biochemistry, 2015

Lipid oxidation in carriers of lecithin:cholesterol acyltransferase gene mutations.

Holleboom AG et al.

Arteriosclerosis, Thrombosis, and Vascular Biology, 2012

Proteinuria in early childhood due to familial LCAT deficiency caused by loss of a disulfide bond in lecithin:cholesterol acyl transferase.

Holleboom AG et al.

Atherosclerosis, 2011

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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."