Varaico: Literature-Extracted Genetic Variants

Gene:FOXL2
Variant:p.N105H
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FOXL2

NM_023067.4:p.N105H

Associated Papers

Functional analysis of a novel FOXL2 mutation in blepharophimosis, ptosis, and epicanthus inversus syndrome type II and elucidation of the genotype-phenotype correlation.

Shen B et al.

Human Genomics, 2025

Lacrimal Gland Involvement in Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome.

Duarte AF et al.

Ophthalmology, 2017

Identification of the forkhead transcriptional factor 2 (FOXL2) gene mutations in four Chinese families with blepharophimosis syndrome.

Zhang L et al.

Molecular Vision, 2013

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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."