Phenotypic variability in two female siblings with oocyte maturation arrest due to a TUBB8 variant
Abstract 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 d...
Main Authors: | , , , , |
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Format: | Article |
Language: | English |
Published: |
BMC
2023-10-01
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Series: | BMC Medical Genomics |
Subjects: | |
Online Access: | https://doi.org/10.1186/s12920-023-01712-7 |