Varaico: Literature-Extracted Genetic Variants

Gene:CPLANE1
Variant:p.Q2234*
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CPLANE1

NM_001384732.1:p.Q2234*

Associated Papers

Pathogenic cryptic variants detectable through exome data reanalysis significantly increase the diagnostic yield in Joubert syndrome.

D'Abrusco F et al.

European Journal of Human Genetics : Ejhg, 2025

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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."