Varaico: Literature-Extracted Genetic Variants

Gene:TUBB8
Variant:p.A313V
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TUBB8

NM_177987.3:p.A313V

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

Clinicopathological and molecular characterization of KRAS wild-type pancreatic ductal adenocarcinomas reveals precursor lesions with oncogenic mutations and fusions in RAS pathway genes.

Toriyama K et al.

The Journal of Pathology, 2025

40317966 (PubMed )
Supplement: PATH-266-337-s002.zip › path6432-sup-0004-TableS4.xlsx › PDAC-042-ad

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

Genetic Abnormalities of Oocyte Maturation: Mechanisms and Clinical Implications.

Baldini GM et al.

International Journal of Molecular Sciences, 2024

Opening SCID newborn screening for novel exon genetic variants through whole-exome sequencing in China.

Yang X et al.

International Immunopharmacology, 2024

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

Hu T et al.

Journal of Ovarian Research, 2023

Nuclear-cytoplasmic asynchrony in oocyte maturation caused by TUBB8 variants via impairing microtubule function: a novel pathogenic mechanism.

Chang T et al.

Reproductive Biology and Endocrinology : Rb&e, 2023

Genetic variants underlying developmental arrests in human preimplantation embryos.

Ozturk S

Molecular Human Reproduction, 2023

Genetic screening and analysis of TUBB8 variants in females seeking ART.

Lin T et al.

Reproductive Biomedicine Online, 2023

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

Yao Z et al.

Journal of Ovarian Research, 2022

Target-Sequencing of Female Infertility Pathogenic Gene Panel and a Novel TUBB8 Loss-of-Function Mutation.

Yuan H et al.

Frontiers in Genetics, 2022

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

Xue Y et al.

Frontiers in Endocrinology, 2022

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

Yang P et al.

Clinical Genetics, 2021

PRIMA-1MET-induced neuroblastoma cell death is modulated by p53 and mycn through glutathione level.

Mlakar V et al.

Journal of Experimental & Clinical Cancer Research : Cr, 2019

30755224 (PubMed )
Supplement: 13046_2019_1066_MOESM1_ESM.xlsx › BE-2C

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 › S5_CHC-1_coding_SNVs
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