Varaico: Literature-Extracted Genetic Variants

Gene:FOXL2
Variant:p.H291fs
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FOXL2

NM_023067.4:p.H291fs

Associated Papers

Genetic and Clinical Features of FOXL2-Associated Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Based on 11 Chinese Families and Literature Review.

Dong Y et al.

American Journal of Medical Genetics. Part A, 2026

Clinical and genetic studies of 17 Han Chinese pedigrees and 31 sporadic patients with blepharophimosis-ptosis-epicanthus inversus syndrome.

Wang Y et al.

Molecular Vision, 2022

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

Méjécase C et al.

Genes, 2021

Hypopituitarism in Patients with Blepharophimosis and FOXL2 Mutations.

Castets S et al.

Hormone Research in Paediatrics, 2020

Identification of a novel FOXL2 mutation in a single family with both types of blepharophimosis‑-ptosis-epicanthus inversus syndrome.

Yang L et al.

Molecular Medicine Reports, 2017

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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."