Varaico: Literature-Extracted Genetic Variants

Gene:LMF1
Variant:p.R354W
Back to variants list

LMF1

NM_022773.4:p.R354W

Associated Papers

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

Dabravolski SA et al.

Sage Open Medicine, 2024

Evinacumab in severe hypertriglyceridemia with or without lipoprotein lipase pathway mutations: a phase 2 randomized trial.

Rosenson RS et al.

Nature Medicine, 2023

36879129 (PubMed )
Supplement: 41591_2023_2222_MOESM1_ESM.pdf

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

Plengpanich W et al.

Molecular Genetics and Metabolism Reports, 2020

Disappearance of recurrent pancreatitis after splenectomy in familial chylomicronemia syndrome.

Marco-Benedí V et al.

Atherosclerosis, 2018

Frequency of rare mutations and common genetic variations in severe hypertriglyceridemia in the general population of Spain.

Lamiquiz-Moneo I et al.

Lipids in Health and Disease, 2016

LipidSeq: a next-generation clinical resequencing panel for monogenic dyslipidemias.

Johansen CT et al.

Journal of Lipid Research, 2014

24503134 (PubMed )
Supplement: supp_D045963_jlr.D045963-1.pdf

Mutations in LPL, APOC2, APOA5, GPIHBP1 and LMF1 in patients with severe hypertriglyceridaemia.

Surendran RP et al.

Journal of Internal Medicine, 2012

De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes.

Rivière JB et al.

Nature Genetics, 2012

22729224 (PubMed )
Supplement: NIHMS382270-supplement-1.pdf

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

New rare genetic variants of LMF1 gene identified in severe hypertriglyceridemia.

Serveaux Dancer M et al.

Journal of Clinical Lipidology, 0

Molecular basis of the familial chylomicronemia syndrome in patients from the National Dyslipidemia Registry of the Spanish Atherosclerosis Society.

Ariza MJ et al.

Journal of Clinical Lipidology, 0

Genetic variants in triglyceride metabolism genes among individuals with hypertriglyceridemia in Colombia.

Puerto-Baracaldo K et al.

Journal of Clinical Lipidology, 0

Identification and functional analysis of novel homozygous LMF1 variants in severe hypertriglyceridemia.

Bedoya C et al.

Journal of Clinical Lipidology, 0

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."