No abstract available
Publication types
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Case Reports
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Letter
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Research Support, N.I.H., Extramural
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Research Support, Non-U.S. Gov't
MeSH terms
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Adolescent
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Amino Acid Sequence
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Base Sequence
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Child
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Child, Preschool
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Female
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Humans
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Infant
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Molecular Sequence Data
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Mutagenesis, Insertional / genetics*
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Mutation / genetics*
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Osteochondrodysplasias / diagnostic imaging
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Osteochondrodysplasias / genetics*
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Phosphatidylinositol-3,4,5-Trisphosphate 5-Phosphatases
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Phosphoric Monoester Hydrolases / chemistry*
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Phosphoric Monoester Hydrolases / genetics*
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Protein Stability
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RNA Splice Sites / genetics
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Radiography
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src Homology Domains*
Substances
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RNA Splice Sites
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Phosphoric Monoester Hydrolases
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INPPL1 protein, human
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Phosphatidylinositol-3,4,5-Trisphosphate 5-Phosphatases