An updated catalog of CTCF variants associated with neurodevelopmental disorder phenotypes

INTRODUCTION: CTCF-related disorder (CRD) is a neurodevelopmental disorder (NDD) caused by monoallelic pathogenic variants in CTCF. The first CTCF variants in CRD cases were documented in 2013. To date, 76 CTCF variants have been further described in the literature. In recent years, due to the incre...

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Detalles Bibliográficos
Autores principales: Price, Emma, Fedida, Liron M., Pugacheva, Elena M., Ji, Yon J., Loukinov, Dmitri, Lobanenkov, Victor V.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Molecular Neuroscience
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10264798/
https://www.ncbi.nlm.nih.gov/pubmed/37324587
http://dx.doi.org/10.3389/fnmol.2023.1185796

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10264798/
https://www.ncbi.nlm.nih.gov/pubmed/37324587
http://dx.doi.org/10.3389/fnmol.2023.1185796

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