Varaico: Literature-Extracted Genetic Variants

Gene:C1QTNF5
Variant:p.S99P
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C1QTNF5

NM_001278431.2:p.S99P

Associated Papers

Common and rare variants in patients with early onset drusen maculopathy.

de Breuk A et al.

Clinical Genetics, 2022

36053979 (PubMed )
Supplement: CGE-102-414-s007.xlsx › Blad1
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."