Varaico: Literature-Extracted Genetic Variants

Gene:CPEB3
Variant:p.R358fs
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CPEB3

NM_014912.5:p.R358fs

Associated Papers

Biallelicframeshift mutation in RIN2 in a patient with intellectual disability and cataract, without RIN2 syndrome.

van Amen-Hellebrekers CJM et al.

American Journal of Medical Genetics. Part A, 2017

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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."