Varaico: Literature-Extracted Genetic Variants

Gene:LMF1
Variant:p.R233*
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LMF1

NM_022773.4:p.R233*

Associated Papers

Genetic Insights on Hypertriglyceridaemia-Induced Acute Pancreatitis in Pregnancy: A Case Series and Literature Review.

Nguyen CS et al.

Case Reports in Endocrinology, 2026

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

Genetic and biochemical analysis of severe hypertriglyceridemia complicated with acute pancreatitis or with low post-heparin lipoprotein lipase mass.

Suzuki T et al.

Endocrine Journal, 2024

Understanding Hypertriglyceridemia: Integrating Genetic Insights.

Alves M et al.

Genes, 2024

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

Dabravolski SA et al.

Sage Open Medicine, 2024

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

Clinical and biochemical features of different molecular etiologies of familial chylomicronemia.

Hegele RA et al.

Journal of Clinical Lipidology, 0

A novel homozygous nonsense variant of LMF1 in pregnancy-induced hypertriglyceridemia with acute pancreatitis.

Tanaka M 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."