Varaico: Literature-Extracted Genetic Variants

Gene:LCAT
Variant:p.V246F
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LCAT

NM_000229.2:p.V246F

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

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

Mehta R et al.

Lipids in Health and Disease, 2021

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

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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."