Varaico: Literature-Extracted Genetic Variants

Gene:CCDC40
Variant:p.G6_A7delFs
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CCDC40

NM_017950.4:p.G6_A7delFs

Associated Papers

CCDC40 mutation as a cause of infertility in a Chinese family with primary ciliary dyskinesia.

Liu L et al.

Medicine, 2021

Compound Heterozygous Variants in the Coiled-Coil Domain Containing 40 Gene in a Chinese Family with Primary Ciliary Dyskinesia Cause Extreme Phenotypic Diversity in Cilia Ultrastructure.

Yang L et al.

Frontiers in Genetics, 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."