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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CDON

Variant:p.N175T

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CDON

NM_001378964.1:p.N175T

hg38:chr11:126018446 T>G

Associated Papers

Compound heterozygous splicing CDON variants result in isolated ocular coloboma.

Reis LM et al.

Clinical Genetics, 2020

32729136 (PubMed )

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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."