Autor: Jahnelle Jackson, Jonathan S. Berg
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Deciding “what” to screen for and “when”: The importance of natural history information
Natural history and age-of-onset data are critical for understanding the penetrance, expressivity, and progression of rare monogenic conditions. This perspective discusses challenges in defining and curating these data and considers how they may inform…
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Deciding “what” to screen for and “when”: The importance of natural history information
Natural history and age-of-onset data are critical for understanding the penetrance, expressivity, and progression of rare monogenic conditions. This perspective discusses challenges in defining and curating these data and considers how they may inform…