Varaico: Literature-Extracted Genetic Variants

Gene:PPARG
Variant:p.R164Q
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PPARG

NM_138711.6:p.R164Q

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

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

Soares RMV et al.

Frontiers in Endocrinology, 2024

Prokineticin-Receptor Network: Mechanisms of Regulation.

Lattanzi R et al.

Life (basel, Switzerland), 2022

Recurrent activating mutations of PPARγ associated with luminal bladder tumors.

Rochel N et al.

Nature Communications, 2019

30651555 (PubMed )
Supplement: 41467_2018_8157_MOESM4_ESM.zip › source_data-14122018 › Raw_Data.xlsx › Fig1

Prospective functional classification of all possible missense variants in PPARG.

Majithia AR et al.

Nature Genetics, 2016

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