Varaico: Literature-Extracted Genetic Variants

Gene:COL18A1
Variant:p.L1168L
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COL18A1

NM_001379500.1:p.L1168L

Associated Papers

Two patients with Knobloch syndrome due to mutation in COL8A1 gene: case report and review of the literature.

Ogreden TA et al.

Bmc Ophthalmology, 2024

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