Severe neurocognitive and growth disorders due to variation in THOC2, an essential component of nuclear mRNA export machinery

Highly conserved TREX-mediated mRNA export is emerging as a key pathway in neuronal development and differentiation. TREX subunit variants cause neurodevelopmental disorders (NDDs) by interfering with mRNA export from the cell nucleus to the cytoplasm. Previously we implicated four missense variants...

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Veröffentlicht in:Hum Mutat
Hauptverfasser: 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, Mosher, Theresa Mihalic, Gillespie, Meredith K, Brady, Lauren, Tarnopolsky, Mark, Madrigal, Irene, Eiris, Jesús, Salgado, Laura Domènech, Rabionet, Raquel, Strom, Tim M, Ishihara, Naoko, Inagaki, Hidehito, Kurahashi, Hiroki, Dudding-Byth, Tracy, Palmer, Elizabeth E, Field, Michael, Gecz, Jozef
Format: Artigo
Sprache:Inglês
Veröffentlicht: 2018
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Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6481655/
https://ncbi.nlm.nih.gov/pubmed/29851191
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.23557
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