Varaico: Literature-Extracted Genetic Variants

Gene:PPARG
Variant:p.E5G
Back to variants list

PPARG

NM_138711.6:p.E5G

Associated Papers

Gene-gene and gene-environment interactions in lipodystrophy: Lessons learned from natural PPARγ mutants.

Broekema MF et al.

Biochimica Et Biophysica Acta. Molecular and Cell Biology of Lipids, 2019

Peroxisome proliferator-activated receptor-gamma C190S mutation causes partial lipodystrophy.

Lüdtke A et al.

The Journal of Clinical Endocrinology and Metabolism, 2007

Impaired peroxisome proliferator-activated receptor gamma function through mutation of a conserved salt bridge (R425C) in familial partial lipodystrophy.

Jeninga EH et al.

Molecular Endocrinology (baltimore, Md.), 2007

A frameshift mutation in peroxisome-proliferator-activated receptor-gamma in familial partial lipodystrophy subtype 3 (FPLD3; MIM 604367).

Hegele RA et al.

Clinical Genetics, 2006

Peroxisomal proliferator activated receptor-gamma deficiency in a Canadian kindred with familial partial lipodystrophy type 3 (FPLD3).

Francis GA et al.

Bmc Medical Genetics, 2006

A single-base mutation in the peroxisome proliferator-activated receptor gamma4 promoter associated with altered in vitro expression and partial lipodystrophy.

Al-Shali K et al.

The Journal of Clinical Endocrinology and Metabolism, 2004

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."