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      • Record: found
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      Importance of standard nomenclature for SMN1 small intragenic ("subtle") mutations.

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      Publication date:
      Journal: Human Mutation
      Keywords: Cyclic AMP Response Element-Binding Protein, Humans, Mutation, Nerve Tissue Proteins, genetics, RNA-Binding Proteins, SMN Complex Proteins, Survival of Motor Neuron 1 Protein, Terminology as Topic

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          Journal
          PubMed ID:: 15024734
          DOI:: 10.1002/humu.20013

          ScienceOpen disciplines: Chemistry
          Keywords: Cyclic AMP Response Element-Binding Protein,Humans,Mutation,Nerve Tissue Proteins,genetics,RNA-Binding Proteins,SMN Complex Proteins,Survival of Motor Neuron 1 Protein,Terminology as Topic
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          ScienceOpen disciplines: Chemistry
          Keywords: Cyclic AMP Response Element-Binding Protein, Humans, Mutation, Nerve Tissue Proteins, genetics, RNA-Binding Proteins, SMN Complex Proteins, Survival of Motor Neuron 1 Protein, Terminology as Topic

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