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As a result of the newly developed guidelines, laboratories were obligated to develop both diagnostic and carrier screening mutation panels that either were identical to or overlapped with respect to ...

Purpose: We developed a 51-mutation extended cystic fibrosis (CF) panel that incorporates the 25 previously recommended CFTR mutations, plus 26 additional mutations including 3199del6, which was ...

Using AI, we identified publications that likely reported a testing or mutation rate, filtered publications for cancer type, and identified sentences that likely reported rates. Rates and covariates ...