Varaico: Literature-Extracted Genetic Variants

Gene:CCDC88C
Variant:p.E208*
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CCDC88C

NM_001080414.4:p.E208*

Associated Papers

Novel mutation for SCA40 with initial presentation as retinitis pigmentosa.

Perković R et al.

Acta Neurologica Belgica, 2023

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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."