Varaico: Literature-Extracted Genetic Variants

Gene:CPLANE1
Variant:p.A1200E
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CPLANE1

NM_001384732.1:p.A1200E

Associated Papers

Novel mutations in the ciliopathy-associated gene CPLANE1 (C5orf42) cause OFD syndrome type VI rather than Joubert syndrome.

Bonnard C et al.

European Journal of Medical Genetics, 2018

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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."