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CRISPR single base editing, neuronal disease modelling and functional genomics for genetic variant analysis: pipeline validation using Kleefstra syndrome EHMT1 haploinsufficiency

BACKGROUND: Over 400 million people worldwide are living with a rare disease. Next Generation Sequencing (NGS) identifies potential disease causative genetic variants. However, many are identified as variants of uncertain significance (VUS) and require functional laboratory validation to determine p...

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Detalles Bibliográficos
Autores principales:	Fear, Vanessa S., Forbes, Catherine A., Anderson, Denise, Rauschert, Sebastian, Syn, Genevieve, Shaw, Nicole, Jamieson, Sarra, Ward, Michelle, Baynam, Gareth, Lassmann, Timo
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2022
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8827184/ https://www.ncbi.nlm.nih.gov/pubmed/35139903 http://dx.doi.org/10.1186/s13287-022-02740-3

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