Varaico: Literature-Extracted Genetic Variants

Gene:LMF1
Variant:p.R451W
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LMF1

NM_022773.4:p.R451W

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

Clinical heterogeneity in monogenic chylomicronaemia.

Heidemann BE et al.

Bmj Case Reports, 2022

[An abnormal lipid profile: when to perform additional research for a genetic cause?]

Heidemann BE et al.

Nederlands Tijdschrift Voor Geneeskunde, 2022

Genetics of Familial Combined Hyperlipidemia (FCHL) Disorder: An Update.

Taghizadeh E et al.

Biochemical Genetics, 2022

Polygenic determinants in extremes of high-density lipoprotein cholesterol.

Dron JS et al.

Journal of Lipid Research, 2017

28870971 (PubMed )
Supplement: 10.1194_M079822_jlr.M079822-1.pdf

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

Integrated analysis of germline and somatic variants in ovarian cancer.

Kanchi KL et al.

Nature Communications, 2014

24448499 (PubMed )
Supplement: NIHMS551112-supplement-9.xlsx › S_Data_8

[Identification of variants in LMF1 gene associated with primary hypertriglyceridemia].

Lamiquiz-Moneo I et al.

Clinica E Investigacion En Arteriosclerosis : Publicacion Oficial De La Sociedad Espanola De Arteriosclerosis, 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

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

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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."