Prospective functional classification of all possible missense variants in PPARG
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics
Link
http://www.nature.com/articles/ng.3700.pdf
Reference30 articles.
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3. Barroso, I. et al. Dominant negative mutations in human PPARγ associated with severe insulin resistance, diabetes mellitus and hypertension. Nature 402, 880–883 (1999).
4. Jeninga, E.H., Gurnell, M. & Kalkhoven, E. Functional implications of genetic variation in human PPARγ. Trends Endocrinol. Metab. 20, 380–387 (2009).
5. Majithia, A.R. et al. Rare variants in PPARG with decreased activity in adipocyte differentiation are associated with increased risk of type 2 diabetes. Proc. Natl. Acad. Sci. USA 111, 13127–13132 (2014).
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