Varaico: Literature-Extracted Genetic Variants

Gene:LCAT
Variant:p.N155D
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LCAT

NM_000229.2:p.N155D

Associated Papers

A novel pathogenic variant in LCAT causing FLD. A case report.

Goñi Ros N et al.

Acta Clinica Belgica, 2022

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

HDL biogenesis, remodeling, and catabolism.

Zannis VI et al.

Handbook of Experimental Pharmacology, 2015

High prevalence of mutations in LCAT in patients with low HDL cholesterol levels in The Netherlands: identification and characterization of eight novel mutations.

Holleboom AG et al.

Human Mutation, 2011

Characterization of antioxidant/anti-inflammatory properties and apoA-I-containing subpopulations of HDL from family subjects with monogenic low HDL disorders.

Daniil G et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2011

Novel pathogenic variant in the LCAT gene in a compound heterozygous patient with fish-eye disease and a mild phenotype.

Miyata M et al.

Journal of Clinical Lipidology, 0

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