Varaico: Literature-Extracted Genetic Variants

Gene:FOXL2
Variant:p.A226fs
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FOXL2

NM_023067.4:p.A226fs

Associated Papers

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

Meng T et al.

Frontiers in Endocrinology, 2022

Clinical and genetic studies of 17 Han Chinese pedigrees and 31 sporadic patients with blepharophimosis-ptosis-epicanthus inversus syndrome.

Wang Y et al.

Molecular Vision, 2022

Hypopituitarism in Patients with Blepharophimosis and FOXL2 Mutations.

Castets S et al.

Hormone Research in Paediatrics, 2020

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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."