Varaico: Literature-Extracted Genetic Variants

Gene:LIPE
Variant:p.V1014M
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LIPE

NM_005357.4:p.V1014M

Associated Papers

Germline variant analysis from a cohort of patients with severe hypertriglyceridemia in Brazil.

Mendes C et al.

Molecular Genetics and Metabolism Reports, 2024

A missense variant Arg611Cys in LIPE which encodes hormone sensitive lipase decreases lipolysis and increases risk of type 2 diabetes in American Indians.

Muller YL et al.

Diabetes/metabolism Research and Reviews, 2022

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
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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."