Varaico: Literature-Extracted Genetic Variants

Gene:PPARG
Variant:p.E157D
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PPARG

NM_015869.5:p.E157D

Associated Papers

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

Clinical and molecular characterization of a severe form of partial lipodystrophy expanding the phenotype of PPARγ deficiency.

Campeau PM et al.

Journal of Lipid Research, 2012

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