Varaico: Literature-Extracted Genetic Variants

Gene:CCDC40
Variant:p.V749L
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CCDC40

NM_017950.4:p.V749L

Associated Papers

Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein arms.

Antony D et al.

Human Mutation, 2013

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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."