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Gene regulation networks and metabolic pathways self-organize and reaccommodate to make the organism perform with stability and reliability under many point mutations, gene duplications and gene deletions.
Given that many point mutations in SV2 lead to improper protein trafficking ([23] and our unpublished observations), it is highly unlikely that a truncated SV2B is expressed in synapses.
Many point mutations can be cured on the RNA level by nuclear factors, i.e. highly specific RNA binding proteins.
However, ionizing agents do not induce as many point mutations as EMS (Belfield et al. 2012) and may therefore not live an easily trackable footprint.
Many point mutations of FGFRs, found in developmental defects such as dwarfisms and craniosynostotic syndromes, result in ligand-independent activation of the FGFRs (Neilson and Friesel, 1996).
Many point mutations in Visc-2 genomic DNA appear to have been deleterious; however, as its sequence has been preferentially conserved over mammalian evolution.
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Many single point mutations have been functionally characterized.
There are many known point mutations causing resistance to imatinib.
However, many MECP2 point mutations, in addition to large deletions, are believed to eliminate gene function; in particular, some mutations in the methyl-binding and transcriptional repression domains cause the most severe RTT phenotypes and might be relevant to the null allele.
236b Many other single point mutations were made to understand the factors controlling gating and protonation of the bound peroxy moiety in hMnSOD.
Next generation sequencing gives additional information to cancer genomics at many levels, including point mutations, insertions, deletions, copy number and translocations depending on the level of the coverage [ 23].
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