Varaico: Literature-Extracted Genetic Variants

Gene:PPARG
Variant:p.G148E
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PPARG

NM_015869.5:p.G148E

Associated Papers

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

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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."