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Showing 1 to 2 of 2 for “"Linking Mutations"”.

  1. Informatics Approaches to Linking Mutations to Biological Pathways, Networks and Clinical Data

    The information gained from sequencing of the human genome has begun to transform human biology and genetic medicine. The discovery of functionally important genetic variation lies at the heart of these endeavors, and there has been substantial progress in understanding the common patterns of …

    iupui Repository record for Informatics Approaches to Linking Mutations to Biological Pathways, Networks and Clinical Data (opens in a new tab)

  2. Integration of ATM, ATR, and DNA-PKcs Signaling Maintains Genome Integrity During Neurogenesis

    … neurogenesis remains unclear despite evidence linking mutations in related NHEJ factor genes to neurological diseases. For example, deficiency in Ku70, Ku80, XRCC4, or DNA ligase IV (Lig4), but not DNA-PKcs results in defective embryonic neurogenesis in mice. This discrepancy may arise from the …

    tenn-hsc Repository record for Integration of ATM, ATR, and DNA-PKcs Signaling Maintains Genome Integrity During Neurogenesis (opens in a new tab)