Varaico: Literature-Extracted Genetic Variants

Gene:PLIN1
Variant:p.T397_V398delFs
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PLIN1

NM_002666.5:p.T397_V398delFs

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

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

Desgrouas C et al.

Cardiovascular Research, 2024

Exome-First Strategy in Adult Patients With CKD: A Cohort Study.

Doreille A et al.

Kidney International Reports, 2023

36938085 (PubMed )
Supplement: mmc3.xlsx › Sheet1

Gene Panel Sequencing of Patients With Monogenic Diabetes Brings to Light Genes Typically Associated With Syndromic Presentations.

Saint-Martin C et al.

Diabetes, 2022

Diagnostic Challenge in PLIN1-Associated Familial Partial Lipodystrophy.

Jéru I et al.

The Journal of Clinical Endocrinology and Metabolism, 2019

The renal manifestations of type 4 familial partial lipodystrophy: a case report and review of literature.

Chen RX et al.

Bmc Nephrology, 2018

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."