Varaico: Literature-Extracted Genetic Variants

Gene:NOBOX
Variant:p.R360*
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NOBOX

NM_001080413.3:p.R360*

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

40246288 (PubMed )
Supplement: deaf058_supplementary_table_s2.docx

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

Sassi A et al.

Molecular Genetics & Genomic Medicine, 2021

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