Varaico: Literature-Extracted Genetic Variants

Gene:CEP83
Variant:p.E530*
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CEP83

NM_016122.3:p.E530*

Associated Papers

Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders.

Jurgens JA et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025

Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders.

Jurgens JA et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

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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."