Varaico: Literature-Extracted Genetic Variants

Gene:PPARG
Variant:p.E138fs
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PPARG

NM_015869.5:p.E138fs

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

Perinatal, metabolic, and reproductive features in PPARG-related lipodystrophy.

Gosseaume C et al.

European Journal of Endocrinology, 2023

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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."