Varaico: Literature-Extracted Genetic Variants

Gene:COL18A1
Variant:p.P772_G773insFs
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COL18A1

NM_130444.3:p.P772_G773insFs

Associated Papers

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

Patel CK et al.

Ophthalmic Genetics, 2022

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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."