Varaico: Literature-Extracted Genetic Variants

Gene:PLIN1
Variant:p.P403_L404Splc
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PLIN1

NM_002666.5:p.P403_L404Splc

Associated Papers

Hypertriglyceridemia Results From an Impaired Catabolism of Triglyceride-Rich Lipoproteins in PLIN1-Related Lipodystrophy.

Vergès B et al.

Arteriosclerosis, Thrombosis, and Vascular Biology, 2024

Molecular mechanisms of perilipin protein function in lipid droplet metabolism.

Griseti E et al.

Febs Letters, 2024

Perilipin 1: a systematic review on its functions on lipid metabolism and atherosclerosis in mice and humans.

Desgrouas C et al.

Cardiovascular Research, 2024

Genome-wide discovery of human splicing branchpoints.

Mercer TR et al.

Genome Research, 2015

25561518 (PubMed )
Supplement: supp_gr.182899.114_Supplemental_TableS3.xlsx › HGMD_predictedMotifs

Perilipin deficiency and autosomal dominant partial lipodystrophy.

Gandotra S et al.

The New England Journal of Medicine, 2011

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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."