Varaico: Literature-Extracted Genetic Variants

Gene:FOXL2
Variant:p.H298Y
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FOXL2

NM_023067.4:p.H298Y

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

Association of reproductive performance with SNPs of FOXL2 gene by SSCP in Japanese flounder (Paralichthys olivaceus).

Shi B et al.

Comparative Biochemistry and Physiology. Part B, Biochemistry & Molecular Biology, 2009

[Mutation analysis of FOXL2 gene and its structure protein in patients of blepharophimosis-ptosis-epicanthus inversus syndrome].

Lin LX et al.

[zhonghua Yan Ke Za Zhi] Chinese Journal of Ophthalmology, 2007

[The mutation study of the FOXL2 gene in a big Chinese family with blepharophimosis-ptosis-epicanthus inversus syndrome].

Tang SJ et al.

Zhonghua Zheng Xing Wai Ke Za Zhi = Zhonghua Zhengxing Waike Zazhi = Chinese Journal of Plastic Surgery, 2007

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

Qi YH et al.

[zhonghua Yan Ke Za Zhi] Chinese Journal of Ophthalmology, 2006

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

Tang S et al.

Mutagenesis, 2006

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

Li WX et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2005

FOXL2 and BPES: mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation.

De Baere E et al.

American Journal of Human Genetics, 2003

Lessons from studies of complex genetic disorders: identification of FOXL2--a novel transcription factor on the wing to fertility.

Führer D

European Journal of Endocrinology, 2002

The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome.

Crisponi L et al.

Nature 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."