Varaico: Literature-Extracted Genetic Variants

Gene:NOBOX
Variant:p.G482S
Back to variants list

NOBOX

NM_001080413.3:p.G482S

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

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

Jordan P et al.

Journal of Assisted Reproduction and Genetics, 2024

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

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

Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Ryu GM et al.

Nucleic Acids Research, 2009

19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File006.xls › TypeI_

NOBOX homeobox mutation causes premature ovarian failure.

Qin Y et al.

American Journal of Human Genetics, 2007

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."