Varaico: Literature-Extracted Genetic Variants

Gene:LMF1
Variant:p.T395I
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LMF1

NM_022773.4:p.T395I

Associated Papers

The landscape of RNA binding proteins in mammalian spermatogenesis.

Li Y et al.

Science (new York, N.y.), 2024

39208083 (PubMed )
Supplement: science.adj8172_tables_s1_to_s16.zip › science.adj8172_table_s14.xlsx › Candidate_Hom_DNS_LOF

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

A Compound Heterozygous Mutation of Lipase Maturation Factor 1 is Responsible for Hypertriglyceridemia of a Patient.

Liu Y et al.

Journal of Atherosclerosis and Thrombosis, 2019

Intensive genetic analysis for Chinese patients with very high triglyceride levels: Relations of mutations to triglyceride levels and acute pancreatitis.

Jin JL et al.

Ebiomedicine, 2018

30420299 (PubMed )
Supplement: mmc1.pdf

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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