Varaico: Literature-Extracted Genetic Variants

Gene:CCDC40
Variant:p.Q930*
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CCDC40

NM_017950.4:p.Q930*

Associated Papers

Combining RSPH9 founder mutation screening and next-generation sequencing analysis is efficient for primary ciliary dyskinesia diagnosis in Saudi patients.

Mabrouk I et al.

Journal of Human Genetics, 2022

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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."