Varaico: Literature-Extracted Genetic Variants

Gene:FOXL2
Variant:p.P292fs
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FOXL2

NM_023067.4:p.P292fs

Associated Papers

[Mutation analysis of FOXL2 gene in Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome].

Ye J et al.

[zhonghua Yan Ke Za Zhi] Chinese Journal of Ophthalmology, 2011

Identification of a novel mutation in FOXL2 gene that leads to blepharophimosis ptosis epicanthus inversus and telecanthus syndrome in a Tunisian consanguineous family.

Chouchene I et al.

Genetic Testing and Molecular Biomarkers, 2010

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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."