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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...
Autores principales: | Price, Emma, Fedida, Liron M., Pugacheva, Elena M., Ji, Yon J., Loukinov, Dmitri, Lobanenkov, Victor V. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2023
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Materias: | |
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 |
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