Varaico: Literature-Extracted Genetic Variants

Gene:FOXL2
Variant:p.S58W
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FOXL2

NM_023067.4:p.S58W

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

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

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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."