Varaico: Literature-Extracted Genetic Variants

Gene:FOXL2
Variant:p.A348insFs
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FOXL2

NM_023067.4:p.A348insFs

Associated Papers

Mutation spectrum of fork-head transcriptional factor gene (FOXL2) in Indian Blepharophimosis Ptosis Epicanthus Inversus Syndrome (BPES) patients.

Kaur I et al.

The British 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 in Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome].

Qi YH et al.

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

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

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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."