Varaico: Literature-Extracted Genetic Variants

Gene:TUBB8
Variant:p.I4L
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TUBB8

NM_177987.3:p.I4L

Associated Papers

Genetic landscape of human oocyte/embryo defects.

Chen B et al.

Cell Genomics, 2026

Advances in monogenic female infertility.

Gu H et al.

Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2025

TUBB8 variants in infertile Japanese women, including a novel homozygous nonsense variant causing zygote multinucleation.

Sako Y et al.

Reproductive Biomedicine Online, 2025

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

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

Novel variants in TUBB8 gene cause multiple phenotypic abnormalities in human oocytes and early embryos.

Hu T et al.

Journal of Ovarian Research, 2023

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

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

Dou Q et al.

Bmc Medical Genomics, 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

Mutation analysis of the TUBB8 gene in primary infertile women with oocyte maturation arrest.

Yao Z et al.

Journal of Ovarian Research, 2022

Gene mutations associated with fertilization failure after in vitro fertilization/intracytoplasmic sperm injection.

Xue Y et al.

Frontiers in Endocrinology, 2022

Rare genetic variability in human drug target genes modulates drug response and can guide precision medicine.

Zhou Y et al.

Science Advances, 2021

34516913 (PubMed )
Supplement: sciadv.abi6856_tables_s1_to_s8.zip › sciadv.abi6856_Table_S6.xlsx › Sheet1

Novel mutations in TUBB8 expand the mutational and phenotypic spectrum of patients with zygotes containing multiple pronuclei.

Sha Q et al.

Gene, 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

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

Chen B et al.

European Journal of Human Genetics : Ejhg, 2019

Mutation analysis of the TUBB8 gene in primary infertile women with arrest in oocyte maturation.

Wang AC et al.

Gynecological Endocrinology : the Official Journal of the International Society of Gynecological Endocrinology, 2018

Human primary liver cancer-derived organoid cultures for disease modeling and drug screening.

Broutier L et al.

Nature Medicine, 2017

29131160 (PubMed )
Supplement: NIHMS74480-supplement-Supplementary_Dataset_4.xlsx › S11_CC-2_coding_SNVs

Novel mutations and structural deletions in TUBB8: expanding mutational and phenotypic spectrum of patients with arrest in oocyte maturation, fertilization or early embryonic development.

Chen B et al.

Human Reproduction (oxford, England), 2017

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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."