Varaico: Literature-Extracted Genetic Variants

Gene:PPARG
Variant:p.L212L
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PPARG

NM_138711.6:p.L212L

Associated Papers

A Novel PPARG R212W Variant Causes Familial Partial Lipodystrophy Type 3: Clinical Presentation and Functional Characterization.

Gao Y et al.

International Journal of Molecular Sciences, 2026

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

Mendes C et al.

Molecular Genetics and Metabolism Reports, 2024

38933898 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_1

Evaluation of the hypothalamic-pituitary-adrenal axis in a case series of familial partial lipodystrophy.

Elias CP et al.

Diabetology & Metabolic Syndrome, 2019

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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."