Varaico: Literature-Extracted Genetic Variants

Gene:TUBB8
Variant:p.Q245H
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TUBB8

NM_177987.3:p.Q245H

Associated Papers

Genetic landscape of human oocyte/embryo defects.

Chen B et al.

Cell Genomics, 2026

41005306 (PubMed )
Supplement: mmc3.xlsx › Table_S2

Molecular Guardians of Oocyte Maturation: A Systematic Review on TUBB8, KIF11, and CKAP5 in IVF Outcomes.

Voros C et al.

International Journal of Molecular Sciences, 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

Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

Pejaver V et al.

American Journal of Human Genetics, 2022

36413997 (PubMed )
Supplement: mmc4.xlsx › clinvar_20201219

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

Oocyte maturation arrest produced by TUBB8 mutations: impact of genetic disorders in infertility treatment.

Lanuza-López MC et al.

Gynecological Endocrinology : the Official Journal of the International Society of Gynecological Endocrinology, 2020

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

Chen B et al.

European Journal of Human Genetics : Ejhg, 2019

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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."