Rare copy number variations affecting the synaptic gene DMXL2 in neurodevelopmental disorders

BACKGROUND: Ultra-rare genetic variants, including non-recurrent copy number variations (CNVs) affecting important dosage-sensitive genes, are important contributors to the etiology of neurodevelopmental disorders (NDDs). Pairing family-based whole-genome sequencing (WGS) with detailed phenotype dat...

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Detalhes bibliográficos
Publicado no:J Neurodev Disord
Main Authors: Costain, Gregory, Walker, Susan, Argiropoulos, Bob, Baribeau, Danielle A., Bassett, Anne S., Boot, Erik, Devriendt, Koen, Kellam, Barbara, Marshall, Christian R., Prasad, Aparna, Serrano, Moises A., Stavropoulos, D. James, Twede, Hope, Vermeesch, Joris R., Vorstman, Jacob A. S., Scherer, Stephen W.
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2019
Assuntos:
Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6366120/
https://ncbi.nlm.nih.gov/pubmed/30732576
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s11689-019-9263-3
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