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bibliographicCitation Bergman JE, Janssen N, van der Sloot AM, de Walle HE, Schoots J, Rendtorff ND, Tranebjaerg L, Hoefsloot LH, van Ravenswaaij-Arts CM, Hofstra RM. A novel classification system to predict the pathogenic effects of CHD7 missense variants in CHARGE syndrome. Hum Mutat. 2012 Aug;33(8):1251–60. doi: 10.1002/humu.22106. PMID: 22539353.
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title A novel classification system to predict the pathogenic effects of CHD7 missense variants in CHARGE syndrome
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