Varaico: Literature-Extracted Genetic Variants

Gene:LCAT
Variant:p.P34Q
Back to variants list

LCAT

NM_000229.2:p.P34Q

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

Lipid Profile Rather Than the LCAT Mutation Explains Renal Disease in Familial LCAT Deficiency.

Lamiquiz-Moneo I et al.

Journal of Clinical Medicine, 2019

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

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."