Varaico: Literature-Extracted Genetic Variants

Gene:FOXL2
Variant:p.P285_H291delFs
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FOXL2

NM_023067.4:p.P285_H291delFs

Associated Papers

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

Méjécase C et al.

Genes, 2021

Screening of a large cohort of blepharophimosis, ptosis, and epicanthus inversus syndrome patients reveals a very strong paternal inheritance bias and a wide spectrum of novel FOXL2 mutations.

Bunyan DJ et al.

European Journal of Medical Genetics, 2019

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

Identification of 34 novel and 56 known FOXL2 mutations in patients with Blepharophimosis syndrome.

Beysen D et al.

Human Mutation, 2008

The human FOXL2 mutation database.

Beysen D et al.

Human Mutation, 2004

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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."