Varaico: Literature-Extracted Genetic Variants

Gene:CPLANE1
Variant:p.L524delFs
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CPLANE1

NM_001384732.1:p.L524delFs

Associated Papers

Novel compound heterozygous CPLANE1 variants identified in a Chinese family with Joubert syndrome.

Zhang C et al.

International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience, 2021

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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."