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	1.	eDiVA-Classification and prioritization of pathogenic variants for clinical diagnostics. [electronic resource] by Bosio, Mattia Drechsel, Oliver Rahman, Rubayte Muyas, Francesc Rabionet, Raquel Bezdan, Daniela Domenech Salgado, Laura Hor, Hyun Schott, Jean-Jacques Munell, Francina Colobran, Roger Macaya, Alfons Estivill, Xavier Ossowski, Stephan Producer: 20200317 In: Human mutation vol. 40 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	Severe neurocognitive and growth disorders due to variation in THOC2, an essential component of nuclear mRNA export machinery. [electronic resource] by Kumar, Raman Gardner, Alison Homan, Claire C Douglas, Evelyn Mefford, Heather Wieczorek, Dagmar Lüdecke, Hermann-Josef Stark, Zornitza Sadedin, Simon Nowak, Catherine Bearce Douglas, Jessica Parsons, Gretchen Mark, Paul Loidi, Lourdes Herman, Gail E Mihalic Mosher, Theresa Gillespie, Meredith K Brady, Lauren Tarnopolsky, Mark Madrigal, Irene Eiris, Jesús Domènech Salgado, Laura Rabionet, Raquel Strom, Tim M Ishihara, Naoko Inagaki, Hidehito Kurahashi, Hiroki Dudding-Byth, Tracy Palmer, Elizabeth E Field, Michael Gecz, Jozef Producer: 20190715 In: Human mutation vol. 39 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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