Varaico: Literature-Extracted Genetic Variants

Gene:LCAT
Variant:p.Y107*
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LCAT

NM_000229.2:p.Y107*

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

Analysis of rare genetic variation underlying cardiometabolic diseases and traits among 200,000 individuals in the UK Biobank.

Jurgens SJ et al.

Nature Genetics, 2022

Genome-wide rare variant analysis for thousands of phenotypes in over 70,000 exomes from two cohorts.

Cirulli ET et al.

Nature Communications, 2020

31992710 (PubMed )
Supplement: 41467_2020_14288_MOESM1_ESM.pdf

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

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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."