Varaico: Literature-Extracted Genetic Variants

Gene:FOXC1
Variant:p.Y81N
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FOXC1

NM_001453.3:p.Y81N

Associated Papers

Clinical utility of genetic testing in 201 preschool children with inherited eye disorders.

Lenassi E et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

31848469 (PubMed )
Supplement: 41436_2019_722_MOESM1_ESM.pdf

CYP1B1 mutations in Spanish patients with primary congenital glaucoma: phenotypic and functional variability.

Campos-Mollo E et al.

Molecular Vision, 2009

Hypomorphic variants in inherited retinal and ocular diseases: A review of the literature with clinical cases.

Thuma TBT et al.

Survey of Ophthalmology, 0

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