Varaico: Literature-Extracted Genetic Variants

Gene:PPARG
Variant:p.Y151C
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PPARG

NM_015869.5:p.Y151C

Associated Papers

A cohort analysis of familial partial lipodystrophy from two Mediterranean countries.

Fernández-Pombo A et al.

Diabetes, Obesity & Metabolism, 2024

Case report: two novel PPARG pathogenic variants associated with type 3 familial partial lipodystrophy in Brazil.

da Silva MA et al.

Diabetology & Metabolic Syndrome, 2024

Familial partial lipodystrophy resulting from loss-of-function PPARγ pathogenic variants: phenotypic, clinical, and genetic features.

Soares RMV et al.

Frontiers in Endocrinology, 2024

Familial Partial Lipodystrophy-Literature Review and Report of a Novel Variant in PPARG Expanding the Spectrum of Disease-Causing Alterations in FPLD3.

Rutkowska L et al.

Diagnostics (basel, Switzerland), 2022

Genotype - phenotype correlation in an adolescent girl with pathogenic PPARy genetic variation that caused severe hypertriglyceridemia and early onset type 2 diabetes.

Gutierrez Alvarez A et al.

Annals of Pediatric Endocrinology & Metabolism, 2021

Natural helix 9 mutants of PPARγ differently affect its transcriptional activity.

Broekema MF et al.

Molecular Metabolism, 2019

Novel peroxisome proliferator-activated receptor gamma mutation in a family with familial partial lipodystrophy type 3.

Miehle K et al.

Clinical Endocrinology, 2016

Human evidence for the involvement of insulin-induced gene 1 in the regulation of plasma glucose concentration.

Krapivner S et al.

Diabetologia, 2007

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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."