Varaico: Literature-Extracted Genetic Variants

Gene:COL18A1
Variant:p.L702P
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COL18A1

NM_001379500.1:p.L702P

Associated Papers

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
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