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22. A functional assay to study the pathogenicity of CHD7 protein variants encountered in CHARGE syndrome patients. Brajadenta GS; Bilan F; Gilbert-Dussardier B; Kitzis A; Thoreau V Eur J Hum Genet; 2019 Nov; 27(11):1683-1691. PubMed ID: 31289371 [TBL] [Abstract][Full Text] [Related]
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