Varaico: Literature-Extracted Genetic Variants

Gene:FOXL2
Variant:p.P281_H289insFs
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FOXL2

NM_023067.4:p.P281_H289insFs

Associated Papers

A novel FOXL2 mutation in a Chinese family with blepharophimosis, ptosis, epicanthus inversus syndrome.

Tan H et al.

Human Genome Variation, 2015

[Deletion and mutation analysis to FOXL2 in blepharophimosis-ptosis-epicanthus inversus syndrome].

Zhou ZM et al.

[zhonghua Yan Ke Za Zhi] Chinese Journal of Ophthalmology, 2010

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

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."