Varaico: Literature-Extracted Genetic Variants

Gene:NOBOX
Variant:p.P619L
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NOBOX

NM_001080413.3:p.P619L

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

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

Jordan P et al.

Journal of Assisted Reproduction and Genetics, 2024

Sumoylation regulates functional properties of the oocyte transcription factors SOHLH1 and NOBOX.

Patton BK et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2023

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

Sassi A et al.

Molecular Genetics & Genomic Medicine, 2021

Identification of Multiple Gene Mutations Accounts for a new Genetic Architecture of Primary Ovarian Insufficiency.

Bouilly J et al.

The Journal of Clinical Endocrinology and Metabolism, 2016

NOBOX is a strong autosomal candidate gene in Tunisian patients with primary ovarian insufficiency.

Bouali N et al.

Clinical Genetics, 2016

Aetiological coding sequence variants in non-syndromic premature ovarian failure: From genetic linkage analysis to next generation sequencing.

Laissue P

Molecular and Cellular Endocrinology, 2015

New NOBOX mutations identified in a large cohort of women with primary ovarian insufficiency decrease KIT-L expression.

Bouilly J et al.

The Journal of Clinical Endocrinology and Metabolism, 2015

Genetics of Female Infertility: Molecular Study of Newborn Ovary Homeobox Gene in Poor Ovarian Responders.

Batiha O et al.

Journal of Human Reproductive Sciences, 0

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