Varaico: Literature-Extracted Genetic Variants

Gene:LCAT
Variant:p.P274S
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LCAT

NM_000229.2:p.P274S

Associated Papers

Novel therapeutic opportunities for familial lecithin:cholesterol acyltransferase deficiency: promises and challenges.

Vitali C et al.

Current Opinion in Lipidology, 2023

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

Current Status of Familial LCAT Deficiency in Japan.

Kuroda M et al.

Journal of Atherosclerosis and Thrombosis, 2021

Genetic, biochemical, and clinical features of LCAT deficiency: update for 2020.

Pavanello C et al.

Current Opinion in Lipidology, 2020

The P274S Mutation of Lecithin-Cholesterol Acyltransferase (LCAT) and Its Clinical Manifestations in a Large Kindred.

Fountoulakis N et al.

American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation, 2019

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

Fotakis P et al.

Biochemistry, 2015

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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."