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TBX1 mutation identified by exome sequencing in a Japanese family with 22q11.2 deletion syndrome-like craniofacial features and hypocalcemia.
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Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
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Obesity modifies the effects of the Asp905Tyr variant of PPP1R3A on risk of type 2 diabetes and insulin sensitivity.
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Diabetes, Obesity & Metabolism, 2007
Polymorphism in the glycogen-associated regulatory subunit of type 1 protein phosphatase (PPP1R3) gene and insulin sensitivity.
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A common variant in PPP1R3 associated with insulin resistance and type 2 diabetes.
Xia J et al.
Diabetes, 1998
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