Transition Bias in CFTR Mutations Associated with Human Disease.
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Incidence of the possible SNP configurations (transition vs. transversion) among>1000 SNPs, many of which have been implicated in clinical CF (http://www.genet.sickkids.on.ca/cftr/app). p values indicate a bias towards transition based on an assumption of equal probability for any individual base replacement. Transition:transversion ratio = 1.2.*http://www.genet.sickkids.on.ca/cftr/app.#p = 1.3×10−56 for transition SNPs.Transition Bias in CFTR Mutations Associated with Human Disease.
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2015-12-02
