Varaico: Literature-Extracted Genetic Variants

Gene:CCDC40
Variant:p.Q1060_N1061Splc
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CCDC40

NM_017950.4:p.Q1060_N1061Splc

Associated Papers

Generation of the induced pluripotent stem cell line UHOMi001-A from a patient with mutations in CCDC40 gene causing Primary Ciliary Dyskinesia (PCD).

Ahmed E et al.

Stem Cell Research, 2018

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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."