Varaico: Literature-Extracted Genetic Variants

Gene:ITGB5
Variant:p.T224_V234ins3
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ITGB5

NM_002213.5:p.T224_V234ins3

Associated Papers

Expanded phenotypic spectrum of FOXL2 Variant c.672_701dup revealed by whole-exome sequencing in a rare blepharophimosis, ptosis, and epicanthus inversus syndrome family.

Lin ZB et al.

Bmc Ophthalmology, 2023

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

Meng T et al.

Frontiers in Endocrinology, 2022

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