Varaico: Literature-Extracted Genetic Variants

Gene:CDON
Variant:p.G884Splc
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CDON

NM_001378964.1:p.G884Splc

Associated Papers

Compound heterozygous splicing CDON variants result in isolated ocular coloboma.

Reis LM et al.

Clinical Genetics, 2020

Exome sequencing in patients with microphthalmia, anophthalmia, and coloboma (MAC) from a consanguineous population.

Islam F et al.

Clinical Genetics, 2020

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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."