Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish

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Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish

Author: Siekierska, Aleksandra; Stamberger, Hannah; Deconinck, Tine; Oprescu, Stephanie N.; Partoens, Michele; Zhang, Yifan; Sourbron, Jo; Adriaenssens, Elias; Mullen, Patrick; Wiencek, Patrick; Hardies, Katia; Lee, Jeong-Soo; Giong, Hoi-Khoanh; Distelmaier, Felix; Elpeleg, Orly; Helbig, Katherine L.; Hersh, Joseph; Isikay, Sedat; Jordan, Elizabeth; Karaca, Ender; Kecskes, Angela; Lupski, James R.; Kovacs-Nagy, Reka; May, Patrick; Narayanan, Vinodh; Pendziwiat, Manuela; Ramsey, Keri; Rangasamy, Sampathkumar; Shinde, Deepali N.; Spiegel, Ronen; Timmerman, Vincent; von Spiczak, Sarah; Helbig, Ingo; Balak, Chris; Belnap, Newell; Claasen, Ana; Courtright, Amanda; de Both, Matt; Huentelman, Matthew J.; Naymik, Marcus; Richholt, Ryan; Siniard, Ashley L.; Szelinger, Szabolcs; Craig, David W.; Schrauwen, Isabelle; Afawi, Zaid; Balling, Rudi; Baulac, Stephanie; Barisic, Nina; Caglayan, Hande S.; Craiu, Dana; Guerrero-Lopez, Rosa; Guerrini, Renzo; Hjalgrim, Helle; Jahn, Johanna; Klein, Karl Martin; Leguern, Eric; Lemke, Johannes R.; Lerche, Holger; Marini, Carla; Moller, Rikke S.; Muhle, Hiltrud; Rosenow, Felix; Serratosa, Jose; Suls, Arvid; Stephani, Ulrich; Sterbova, Katalin; Striano, Pasquale; Zara, Federico; Weckhuysen, Sarah; Francklyn, Christopher; Antonellis, Anthony; de Witte, Peter; De Jonghe, Peter
Tübinger Autor(en):
Lerche, Holger
Published in: Nature Communications (2019), Bd. 10, Article 708
Verlagsangabe: Nature Publishing Group
Language: English
Full text: http://dx.doi.org/10.1038/s41467-018-07953-w
ISSN: 2041-1723
DDC Classifikation: 500 - Natural sciences and mathematics
Dokumentart: Artikel
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