Varaico: Literature-Extracted Genetic Variants

Gene:LMF1
Variant:p.R342*
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LMF1

NM_022773.4:p.R342*

Associated Papers

Rare variant genetic landscape of familial chylomicronemia syndrome (FCS) in the United Kingdom.

Bashir B et al.

Genetics in Medicine Open, 2025

Ethnic Diversity and Distinctive Features of Familial Versus Multifactorial Chylomicronemia Syndrome: Insights From the UK FCS National Registry.

Bashir B et al.

Arteriosclerosis, Thrombosis, and Vascular Biology, 2024

39234690 (PubMed )
Supplement: atv-44-2334-s001.pdf

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

An explainable model of host genetic interactions linked to COVID-19 severity.

Onoja A et al.

Communications Biology, 2022

36289370 (PubMed )
Supplement: 42003_2022_4073_MOESM4_ESM.xlsx › S1

Identification of a novel and heterozygous LMF1 nonsense mutation in an acute pancreatitis patient with severe hypertriglyceridemia, severe obesity and heavy smoking.

Chen WW et al.

Lipids in Health and Disease, 2019

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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."