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Assessment of the evidence yield for the calibrated PP3/BP4 computational recommendations

Sarah L. Stenton, Vikas Pejaver, Timothy Bergquist, Leslie G. Biesecker, Alicia B. Byrne, Emily A.W. Nadeau, Marc S. Greenblatt, Steven M. Harrison, Sean V. Tavtigian, Predrag Radivojac, Steven E. Brenner, Anne O’Donnell‐Luria, Anne O’Donnell-Luria, Leslie G. Biesecker, Steven M. Harrison, Ahmad A. Tayoun, Jonathan S. Berg, Steven E. Brenner, Garry R. Cutting, Sian Ellard, Marc S. Greenblatt, Peter Kang, Izabela Karbassi, Rachel Karchin, Jessica Mester, Anne O’Donnell-Luria, Anne O’Donnell-Luria, Tina Pesaran, Sharon E. Plon, Heidi L. Rehm, Natasha T. Strande, Sean V. Tavtigian, Scott Topper

2024Genetics in Medicine16 citationsDOIOpen Access PDF

Topics & Concepts

Missense mutationMedicineBiologyGeneticsPhenotypeGeneGenomics and Rare DiseasesHereditary Neurological DisordersGenetic Associations and Epidemiology
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