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The gene has approximately 2000 known mutations and all of them affect in some degree the protein function, which makes the pathophysiological manifestations to be multisystemic, mainly affecting the respiratory, gastrointestinal, endocrine, and reproductive tracts

There was also a dose-dependent effect on BW gain, but no effect on total IGF-I levels, IGFBPs, or serum markers of bone formation and resorption

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