aNew mutation non-previously reported. bThe c.554_567del is a redundant mutation that was detected in 11 unrelated Spanish families [14]. NA: not available.
*All COPD patients were non-smokers for at least 6 months prior to study entry. #Fewer sequences were obtained from COPD samples than from Control samples (p = 0.0326); this association was driven by
This project provides sequencing of PMS2- and PMS2CL-specific long-range PCR (LR-PCR) amplicons for 155 Coriell samples, drawn from 1000 Genomes, Genome in a Bottle (GIAB), and the Illumina Polaris 1
