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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CCDC39

Variant:p.R78C

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CCDC39

NM_181426.2:p.R78C

hg38:chr3:180661986 G>A

Associated Papers

Genotype-Phenotype Correlation in a Group of Italian Patients With Primary Ciliary Dyskinesia.

Petrarca L et al.

Pediatric Pulmonology, 2025

40183288 (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."