Varaico: Literature-Extracted Genetic Variants

Gene:NOBOX
Variant:p.V350L
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NOBOX

NM_001080413.3:p.V350L

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

Molecular genetics of infertility: loss-of-function mutations in humans and corresponding knockout/mutated mice.

Jiao SY et al.

Human Reproduction Update, 2021

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

Genetics of premature ovarian failure.

Bilgin EM et al.

Current Opinion in Obstetrics & Gynecology, 2015

Ethnic specificity of variants of the ESR1, HK3, BRSK1 genes and the 8q22.3 locus: no association with premature ovarian failure (POF) in Serbian women.

Qin Y et al.

Maturitas, 2014

Novel NOBOX loss-of-function mutations account for 6.2% of cases in a large primary ovarian insufficiency cohort.

Bouilly J et al.

Human Mutation, 2011

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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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."