Varaico: Literature-Extracted Genetic Variants

Gene:COL18A1
Variant:p.V299fs
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COL18A1

NM_030582.4:p.V299fs

Associated Papers

Surgical Outcomes of Retinal Detachment in Knobloch Syndrome.

Alzaben KA et al.

Ophthalmology. Retina, 2024

Whole genome sequencing in a Knobloch syndrome family confirms the molecular diagnosis.

Patel CK et al.

Ophthalmic Genetics, 2022

Case Report: Novel Biallelic Variants in the COL18A1 Gene in a Chinese Family With Knobloch Syndrome.

Chong SC et al.

Frontiers in Neurology, 2022

35693012 (PubMed )
Supplement: Data_Sheet_1.xlsx › Sheet1

Molecular and Clinical Findings in Patients With Knobloch Syndrome.

Hull S et al.

Jama Ophthalmology, 2016

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