Varaico: Literature-Extracted Genetic Variants

Gene:FOXL2
Variant:p.Y91*
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FOXL2

NM_023067.4:p.Y91*

Associated Papers

Shifting the landscape: Dominant C-terminal rare missense FOXL2 variants in non-syndromic primary ovarian failure etiology.

Jordan P et al.

Clinical Genetics, 2024

Expanded phenotypic spectrum of FOXL2 Variant c.672_701dup revealed by whole-exome sequencing in a rare blepharophimosis, ptosis, and epicanthus inversus syndrome family.

Lin ZB et al.

Bmc Ophthalmology, 2023

Genetic etiologic analysis in 74 Chinese Han women with idiopathic premature ovarian insufficiency by combined molecular genetic testing.

Shen J et al.

Journal of Assisted Reproduction and Genetics, 2021

Mutation spectrum of fork-head transcriptional factor gene (FOXL2) in Indian Blepharophimosis Ptosis Epicanthus Inversus Syndrome (BPES) patients.

Kaur I et al.

The British Journal of Ophthalmology, 2011

FOXL2 mutations and genomic rearrangements in BPES.

Beysen D et al.

Human Mutation, 2009

The transcription factor FOXL2 in ovarian function and dysfunction.

De Baere E et al.

Folia Histochemica Et Cytobiologica, 2009

FOXL2 mutations in Indian families with blepharophimosis-ptosis-epicanthus inversus syndrome.

Nallathambi J et al.

Journal of Genetics, 2007

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