Ocular Genetics

Genetic Variants in PIKFYVE: A Review of Ocular Phenotypes. featured image
*Genetic Variation

Genetic Variants in PIKFYVE: A Review of Ocular Phenotypes.

Many studies have identified disease-causing variants of PIKFYVE in ocular tissues; however, a comprehensive review of these variants and their ocular phenotypes is lacking. The …

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Ocular Genetics

COL4A1: Ocular and Systemic Vasculopathy — Genotype–Phenotype Correlation Analysis and Clinical Translation

Clinically grounded research focused on COL4A1-related vasculopathy with emphasis on ophthalmic findings and translational implications.

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