Varaico: Literature-Extracted Genetic Variants

Gene:NOBOX
Variant:p.S385Splc
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NOBOX

NM_001080413.3:p.S385Splc

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

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

Mutation analysis of NOBOX homeodomain in Chinese women with premature ovarian failure.

Qin Y et al.

Fertility and Sterility, 2009

NOBOX homeobox mutation causes premature ovarian failure.

Qin Y et al.

American Journal of Human Genetics, 2007

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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."