Varaico: Literature-Extracted Genetic Variants

Gene:FOXL2
Variant:p.Y274*
Back to variants list

FOXL2

NM_023067.4:p.Y274*

Associated Papers

The Genetics and Biology of FOXL2.

Tucker EJ

Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2022

The Genetic and Clinical Features of FOXL2-Related Blepharophimosis, Ptosis and Epicanthus Inversus Syndrome.

Méjécase C et al.

Genes, 2021

Identification of a novel FOXL2 mutation in a single family with both types of blepharophimosis‑-ptosis-epicanthus inversus syndrome.

Yang L et al.

Molecular Medicine Reports, 2017

Differential apoptotic and proliferative activities of wild-type FOXL2 and blepharophimosis-ptosis-epicanthus inversus syndrome (BPES)-associated mutant FOXL2 proteins.

Kim JH et al.

The Journal of Reproduction and Development, 2014

Towards a functional classification of pathogenic FOXL2 mutations using transactivation reporter systems.

Dipietromaria A et al.

Human Molecular Genetics, 2009

The transcription factor FOXL2 in ovarian function and dysfunction.

De Baere E et al.

Folia Histochemica Et Cytobiologica, 2009

FOXL2: at the crossroads of female sex determination and ovarian function.

Benayoun BA et al.

Advances in Experimental Medicine and Biology, 2009

FOXL2 and BPES: mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation.

De Baere E et al.

American Journal of Human Genetics, 2003

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."