Varaico: Literature-Extracted Genetic Variants

Gene:FOXL2
Variant:p.A225_A230delins
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FOXL2

NM_023067.4:p.A225_A230delins

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

Novel FOXL2 mutations in two Chinese families with blepharophimosis-ptosis-epicanthus inversus syndrome.

Xue M et al.

Bmc Medical Genetics, 2015

[Gene mapping on Blepharophimosis Epicanthus Inversus and Ptosis syndrome type I in Chinese family].

Zhang W et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2001

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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."