Pitfalls in identifying intronic germline pathogenic variants by comprehensive cancer genomic profiling: technical limitations or biased clinical/diagnostic utility?

Maria De Bonis; Camilla Nero; Giovanni Scambia; Nicola Normanno; Angelo Minucci

doi:10.1136/ijgc-2024-005382

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Pitfalls in identifying intronic germline pathogenic variants by comprehensive cancer genomic profiling: technical limitations or biased clinical/diagnostic utility?

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