Varaico: Literature-Extracted Genetic Variants

Gene:TUBB8
Variant:p.C303R
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TUBB8

NM_177987.3:p.C303R

Associated Papers

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

Steroid hormone receptors, exome sequencing and treatment responsiveness of breast cancer patient-derived xenografts originated in a South American country.

Pataccini G et al.

Scientific Reports, 2025

39827242 (PubMed )
Supplement: 41598_2025_86389_MOESM2_ESM.xlsx › Sheet1

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

Yang X et al.

International Immunopharmacology, 2024

Genetic variants underlying developmental arrests in human preimplantation embryos.

Ozturk S

Molecular Human Reproduction, 2023

Expanding the Genetic and Phenotypic Spectrum of Female Infertility Caused by TUBB8 Mutations.

Lu Q et al.

Reproductive Sciences (thousand Oaks, Calif.), 2021

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

Yang P et al.

Clinical Genetics, 2021

Whole-genome sequencing of recurrent neuroblastoma reveals somatic mutations that affect key players in cancer progression and telomere maintenance.

Fransson S et al.

Scientific Reports, 2020

33384420 (PubMed )
Supplement: 41598_2020_78370_MOESM2_ESM.xlsx › S3._SNV

Clinical Evaluation of a Custom Gene Panel as a Tool for Precision Male Infertility Diagnosis by Next-Generation Sequencing.

Cannarella R et al.

Life (basel, Switzerland), 2020

33076341 (PubMed )
Supplement: life-10-00242-s001.pdf

Whole exome sequencing identified mutations causing hearing loss in five consanguineous Pakistani families.

Zhou Y et al.

Bmc Medical Genetics, 2020

32682410 (PubMed )
Supplement: 12881_2020_1087_MOESM1_ESM.xlsx › HL2
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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."