Varaico: Literature-Extracted Genetic Variants

Gene:CEP19
Variant:p.R57*
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CEP19

NM_032898.5:p.R57*

Associated Papers

Severe Early-Onset Obesity and Diabetic Ketoacidosis due to a Novel Homozygous c.169C>T p.Arg57* Variant in CEP19 Gene.

Cayir A et al.

Molecular Syndromology, 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."