Varaico: Literature-Extracted Genetic Variants

Gene:CEP83
Variant:p.R511P
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CEP83

NM_016122.3:p.R511P

Associated Papers

Genetic Diagnosis for 64 Patients with Inherited Retinal Disease.

Lynn J et al.

Genes, 2022

Mutations of CEP83 cause infantile nephronophthisis and intellectual disability.

Failler M et al.

American Journal of Human Genetics, 2014

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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."