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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...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
BioMed Central
2023
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| 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 |