Varaico: Literature-Extracted Genetic Variants

Gene:LMF1
Variant:p.Y460*
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LMF1

NM_022773.4:p.Y460*

Associated Papers

Identification of a Compound Heterozygous LMF1 Variants in a Patient with Severe Hypertriglyceridemia - Case Report and Literature Review.

Cao C et al.

Journal of Atherosclerosis and Thrombosis, 2024

The role of lipase maturation factor 1 in hypertriglyceridaemia and atherosclerosis: An update.

Dabravolski SA et al.

Sage Open Medicine, 2024

A Heterozygous LMF1 Gene Mutation (c.1523C>T), Combined With an LPL Gene Mutation (c.590G>A), Aggravates the Clinical Symptoms in Hypertriglyceridemia.

Guo D et al.

Frontiers in Genetics, 2022

Genetic and functional studies of the LMF1 gene in Thai patients with severe hypertriglyceridemia.

Plengpanich W et al.

Molecular Genetics and Metabolism Reports, 2020

Identification of a novel LMF1 nonsense mutation responsible for severe hypertriglyceridemia by targeted next-generation sequencing.

Cefalù AB et al.

Journal of Clinical Lipidology, 0

Characterization of two novel pathogenic variants at compound heterozygous status in lipase maturation factor 1 gene causing severe hypertriglyceridemia.

Péterfy M et al.

Journal of Clinical Lipidology, 0

Comprehensive analysis of Chinese patients with non-LPL familial chylomicronemia syndrome: Genetic variants, dietary interventions, and clinical insights.

Gong Z et al.

Journal of Clinical Lipidology, 0

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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."