A recurrent de novo variant in NUSAP1 escapes nonsense‐mediated decay and leads to microcephaly, epilepsy, and developmental delay

NUSAP1 encodes a cell cycle‐dependent protein with key roles in mitotic progression, spindle formation, and microtubule stability. Both over‐ and under‐expression of NUSAP1 lead to dysregulation of mitosis and impaired cell proliferation. Through exome sequencing and Matchmaker Exchange, we identifi...

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Detalles Bibliográficos
Autores principales: Mo, Alisa, Paz‐Ebstein, Emuna, Yanovsky‐Dagan, Shira, Lai, Abbe, Mor‐Shaked, Hagar, Gilboa, Tal, Yang, Edward, Shao, Diane D., Walsh, Christopher A., Harel, Tamar
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Blackwell Publishing Ltd 2023
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10236379/
https://www.ncbi.nlm.nih.gov/pubmed/37005340
http://dx.doi.org/10.1111/cge.14335

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10236379/
https://www.ncbi.nlm.nih.gov/pubmed/37005340
http://dx.doi.org/10.1111/cge.14335

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