Varaico: Literature-Extracted Genetic Variants

Gene:FOXL2
Variant:p.E139*
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FOXL2

NM_023067.4:p.E139*

Associated Papers

Functional Studies of Novel FOXL2 Variants in Chinese Families With Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome.

Li F et al.

Frontiers in Genetics, 2021

Mutations of the transcription factor FOXL2 gene in Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome.

Li D et al.

Genetic Testing and Molecular Biomarkers, 2009

The human FOXL2 mutation database.

Beysen D et al.

Human Mutation, 2004

Comparative analysis of the FOXL2 gene and characterization of mutations in BPES patients.

Udar N et al.

Human Mutation, 2003

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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."