Varaico: Literature-Extracted Genetic Variants

Gene:FOXL2
Variant:p.W128*
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FOXL2

NM_023067.4:p.W128*

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

Novel FOXL2 variants in two Chinese families with blepharophimosis, ptosis, and epicanthus inversus syndrome.

Zhao M et al.

Frontiers in Genetics, 2024

The Genetics and Biology of FOXL2.

Tucker EJ

Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2022

Ovarian Reserve and ART Outcomes in Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Patients With FOXL2 Mutations.

Meng T et al.

Frontiers in Endocrinology, 2022

Functional Studies of Novel FOXL2 Variants in Chinese Families With Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome.

Li F et al.

Frontiers in Genetics, 2021

Screening of a large cohort of blepharophimosis, ptosis, and epicanthus inversus syndrome patients reveals a very strong paternal inheritance bias and a wide spectrum of novel FOXL2 mutations.

Bunyan DJ et al.

European Journal of Medical Genetics, 2019

FOXL2 mutations in Taiwanese patients with blepharophimosis, ptosis, epicanthus inversus syndrome.

Lin WD et al.

Clinical Chemistry and Laboratory Medicine, 2010

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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."