Varaico: Literature-Extracted Genetic Variants

Gene:FOXL2
Variant:p.A223_A234ins4
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FOXL2

NM_023067.4:p.A223_A234ins4

Associated Papers

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

Méjécase C et al.

Genes, 2021

Genes involved in human premature ovarian failure.

Persani L et al.

Journal of Molecular Endocrinology, 2010

FOXL2 mutations lead to different ovarian phenotypes in BPES patients: Case Report.

Méduri G et al.

Human Reproduction (oxford, England), 2010

FOXL2 mutations and genomic rearrangements in BPES.

Beysen D et al.

Human Mutation, 2009

A novel polyalanine expansion in FOXL2: the first evidence for a recessive form of the blepharophimosis syndrome (BPES) associated with ovarian dysfunction.

Nallathambi J et al.

Human Genetics, 2007

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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."