Varaico: Literature-Extracted Genetic Variants

Gene:PPARG
Variant:p.Q449L
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PPARG

NM_138711.6:p.Q449L

Associated Papers

A cohort analysis of familial partial lipodystrophy from two Mediterranean countries.

Fernández-Pombo A et al.

Diabetes, Obesity & Metabolism, 2024

Familial partial lipodystrophy linked to a novel peroxisome proliferator activator receptor -γ (PPARG) mutation, H449L: a comparison of people with this mutation and those with classic codon 482 Lamin A/C (LMNA) mutations.

Demir T et al.

Diabetic Medicine : a Journal of the British Diabetic Association, 2016

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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."