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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CCDC39

Variant:p.Q744fs

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CCDC39

NM_181426.2:p.Q744fs

hg38:chr3:180619294 TTG>N

Associated Papers

CCDC39 Mutation-Related Primary Ciliary Dyskinesia with Congenitally Corrected Transposition of the Great Arteries: A Case Report.

Ghandourah H et al.

The American Journal of Case Reports, 2025

41082487 (PubMed )

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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."