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Phenotypic variability in two female siblings with oocyte maturation arrest due to a TUBB8 variant

Tubulin beta-8 (TUBB8) is expressed exclusively in the oocyte and early embryo, encoding a beta-tubulin polypeptide that participates in the assembly of microtubules. TUBB8 was first attributed to being responsible for oocyte MI arrest. Further studies have demonstrated that patients with different...

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Detalles Bibliográficos
Autores principales: Dou, Qian, Xu, HongEn, Ma, LiYing, Tan, Li, Tang, WenXue
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10614405/
https://www.ncbi.nlm.nih.gov/pubmed/37904145
http://dx.doi.org/10.1186/s12920-023-01712-7