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Interlaboratory evaluation of high molecular weight DNA extraction methods for long-read sequencing and structural variant analysis by Alison S. Devonshire, Jordi Morata, Claire Jubin, Rui Pedro Abreu Pereira, Laura Hernandez-Hernandez, Dilek Yener, Eric Cabannes, Steven McGinn, Marc Delepine, Cédric Fund, Raúl Tonda, Simon Heath, Marc Dabad, Javier Gutierrez-Cuesta, Ignacio Sanchez Escudero, Maria Cristina Frias-Lopez, Simon Cowen, Alexandra Whale, Thorsten Voss, Jean-François Deleuze, Ivo Gut, Marta Gut, Carole A. Foy
Published 2025-07-01Get full text
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Proteasome subunit PSMC3 variants cause neurosensory syndrome combining deafness and cataract due to proteotoxic stress by Ariane Kröll‐Hermi, Frédéric Ebstein, Corinne Stoetzel, Véronique Geoffroy, Elise Schaefer, Sophie Scheidecker, Séverine Bär, Masanari Takamiya, Koichi Kawakami, Barbara A Zieba, Fouzia Studer, Valerie Pelletier, Carine Eyermann, Claude Speeg‐Schatz, Vincent Laugel, Dan Lipsker, Florian Sandron, Steven McGinn, Anne Boland, Jean‐François Deleuze, Lauriane Kuhn, Johana Chicher, Philippe Hammann, Sylvie Friant, Christelle Etard, Elke Krüger, Jean Muller, Uwe Strähle, Hélène Dollfus
Published 2020-06-01Get full text
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