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Why is it important?
This is significant for understanding of the function of POC1A in humans and also makes the important point that genetecists seeing patients with dysmorphic features need also be alert to signs of severe insulin resistance.
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This page is a summary of: Truncation of POC1A associated with short stature and extreme insulin resistance, September 2015, Bioscientifica,
DOI: 10.1530/jme-15-0090.
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