Variant: rs193303103

present in Gene: NOBOX present in Chromosome: 7 Position on Chromosome: 144400132 Alleles of this Variant: C/G

rs193303103 in NOBOX gene and Premature Ovarian Failure 5 PMID 25514101 2015 New NOBOX mutations identified in a large cohort of women with primary ovarian insufficiency decrease KIT-L expression.

PMID 17701902 2007 NOBOX homeobox mutation causes premature ovarian failure.

PMID 21837770 2011 Novel NOBOX loss-of-function mutations account for 6.2% of cases in a large primary ovarian insufficiency cohort.

PMID 27798098 2016 Impaired protein stability and nuclear localization of NOBOX variants associated with premature ovarian insufficiency.