Varaico: Literature-Extracted Genetic Variants

Gene:LMF1
Variant:p.R523H
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LMF1

NM_022773.4:p.R523H

Associated Papers

Heterogeneous nature of severe hypertriglyceridemia in childhood.

Ariza MJ et al.

Journal of Clinical Lipidology, 2026

Natural History of Germline BRCA1 Mutated and BRCA Wild-type Triple-negative Breast Cancer.

Gardi N et al.

Cancer Research Communications, 2024

38315150 (PubMed )
Supplement: crc-23-0277-s13.xlsx › Sheet1

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

Dabravolski SA et al.

Sage Open Medicine, 2024

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

Plengpanich W et al.

Molecular Genetics and Metabolism Reports, 2020

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

Surendran RP et al.

Journal of Internal Medicine, 2012

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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."