Varaico: Literature-Extracted Genetic Variants

Gene:NOBOX
Variant:p.G152R
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NOBOX

NM_001080413.3:p.G152R

Associated Papers

Primary ovarian insufficiency due to homozygous variants in the homeobox transcription factor NOBOX.

Zidoune H et al.

Molecular Biology Reports, 2025

Reclassifying NOBOX variants in primary ovarian insufficiency cases with a corrected gene model and a novel quantitative framework.

Veitia RA et al.

Human Reproduction (oxford, England), 2025

Oocyte/zygote/embryo maturation arrest: a clinical study expanding the phenotype of NOBOX variants.

Van Der Kelen A et al.

Journal of Assisted Reproduction and Genetics, 2025

Identification of novel variants underlying non-syndromic primary ovarian insufficiency using a targeted NGS gene panel.

Veneziano C et al.

Frontiers in Endocrinology, 2025

41458559 (PubMed )
Supplement: Table4.xlsx › sheet1

NOBOX gene variants in premature ovarian insufficiency: ethnicity-dependent insights.

Jordan P et al.

Journal of Assisted Reproduction and Genetics, 2024

Compound heterozygous null mutations of NOBOX in sisters with delayed puberty and primary amenorrhea.

Sassi A et al.

Molecular Genetics & Genomic Medicine, 2021

Next Generation Sequencing Should Be Proposed to Every Woman With "Idiopathic" Primary Ovarian Insufficiency.

Eskenazi S et al.

Journal of the Endocrine Society, 2021

APOBEC Mutagenesis and Copy-Number Alterations Are Drivers of Proteogenomic Tumor Evolution and Heterogeneity in Metastatic Thoracic Tumors.

Roper N et al.

Cell Reports, 2019

30840888 (PubMed )
Supplement: NIHMS1523294-supplement-6.xlsx › RA003_P

Impaired protein stability and nuclear localization of NOBOX variants associated with premature ovarian insufficiency.

Ferrari I et al.

Human Molecular Genetics, 2016

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