Varaico: Literature-Extracted Genetic Variants

Gene:PLIN1
Variant:p.Y401fs
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PLIN1

NM_002666.5:p.Y401fs

Associated Papers

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

Desgrouas C et al.

Cardiovascular Research, 2024

PLIN1 Haploinsufficiency Causes a Favorable Metabolic Profile.

Patel KA et al.

The Journal of Clinical Endocrinology and Metabolism, 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

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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."