Varaico: Literature-Extracted Genetic Variants

Gene:PPARG
Variant:p.T468K
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PPARG

NM_015869.5:p.T468K

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

Prospective functional classification of all possible missense variants in PPARG.

Majithia AR et al.

Nature Genetics, 2016

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