Varaico: Literature-Extracted Genetic Variants

Gene:LMF1
Variant:p.R364Q
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LMF1

NM_022773.4:p.R364Q

Associated Papers

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

Dabravolski SA et al.

Sage Open Medicine, 2024

Biochemical, Clinical, and Genetic Characteristics of Mexican Patients with Primary Hypertriglyceridemia, Including the First Case of Hyperchylomicronemia Syndrome Due to GPIHBP1 Deficiency.

Rodríguez-Gutiérrez PG et al.

International Journal of Molecular Sciences, 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

Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.

Dron JS et al.

Bmc Medical Genomics, 2020

32041611 (PubMed )
Supplement: 12920_2020_669_MOESM1_ESM.xlsx › Supp_Table_4

Disappearance of recurrent pancreatitis after splenectomy in familial chylomicronemia syndrome.

Marco-Benedí V et al.

Atherosclerosis, 2018

Alterations in plasma triglycerides lipolysis in patients with history of multifactorial chylomicronemia.

Marmontel O et al.

Atherosclerosis, 2017

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

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

Surendran RP et al.

Journal of Internal Medicine, 2012

[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

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

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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."