Germline variants in SMARCB1 and other members of the BAF chromatin-remodeling complex across human disease entities: a meta-analysis

Germline variants that affect function are found in seven genes of the BAF chromatin-remodeling complex. They are linked to a broad range of diseases that, according to the gene affected, range from non-syndromic or syndromic neurodevelopmental disorders to low-grade tumors and malignancies. In the...

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Detalhes bibliográficos
Publicado no:Eur J Hum Genet
Main Authors: Holsten, Till, Bens, Susanne, Oyen, Florian, Nemes, Karolina, Hasselblatt, Martin, Kordes, Uwe, Siebert, Reiner, Frühwald, Michael C., Schneppenheim, Reinhard, Schüller, Ulrich
Formato: Artigo
Idioma:Inglês
Publicado em: Springer International Publishing 2018
Assuntos:
Review Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6057970/
https://ncbi.nlm.nih.gov/pubmed/29706634
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-018-0143-1
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