Varaico: Literature-Extracted Genetic Variants

Gene:CPSF1
Variant:p.F1291insFs
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CPSF1

NM_013291.3:p.F1291insFs

Associated Papers

CPSF1 mutations are associated with early-onset high myopia and involved in retinal ganglion cell axon projection.

Ouyang J et al.

Human Molecular Genetics, 2019

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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."