Varaico: Literature-Extracted Genetic Variants

Gene:NOBOX
Variant:p.R117Q
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NOBOX

NM_001080413.3:p.R117Q

Associated Papers

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

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

A homozygous NOBOX truncating variant causes defective transcriptional activation and leads to primary ovarian insufficiency.

Li L et al.

Human Reproduction (oxford, England), 2017

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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."