Varaico: Literature-Extracted Genetic Variants

Gene:TUBB8
Variant:p.R380H
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TUBB8

NM_177987.3:p.R380H

Associated Papers

Genetic landscape of human oocyte/embryo defects.

Chen B et al.

Cell Genomics, 2026

41005306 (PubMed )
Supplement: mmc3.xlsx › Table_S2

Three Novel Mutations in TUBB8 Cause Female Infertility Due to Multiple Morphological Abnormalities of the Oocyte and Early Embryo.

Li D et al.

Reproductive Sciences (thousand Oaks, Calif.), 2025

Identification of novel variants and expansion of the phenotypic spectrum in PATL2, WEE2, and TUBB8 associated with human early embryonic arrest.

Zhao H et al.

Journal of Assisted Reproduction and Genetics, 2025

TUBB8 mutations as a cause of oocyte maturation abnormalities: presentation of oocyte and embryo profiles and novel mutations.

Ebru H et al.

Reproductive Biomedicine Online, 2023

Exonic genetic variants associated with unexpected fertilization failure and zygotic arrest after ICSI: a systematic review.

Torra-Massana M et al.

Zygote (cambridge, England), 2023

Genetic variants underlying developmental arrests in human preimplantation embryos.

Ozturk S

Molecular Human Reproduction, 2023

The comprehensive variant and phenotypic spectrum of TUBB8 in female infertility.

Zheng W et al.

Journal of Assisted Reproduction and Genetics, 2021

Meiosis interrupted: the genetics of female infertility via meiotic failure.

Biswas L et al.

Reproduction (cambridge, England), 2021

Mutation analysis of tubulin beta 8 class VIII in infertile females with oocyte or embryonic defects.

Yang P et al.

Clinical Genetics, 2021

Identification novel mutations in TUBB8 in female infertility and a novel phenotype of large polar body in oocytes with TUBB8 mutations.

Zhao L et al.

Journal of Assisted Reproduction and Genetics, 2020

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."