Varaico: Literature-Extracted Genetic Variants

Gene:CCDC40
Variant:p.R942insFs
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CCDC40

NM_017950.4:p.R942insFs

Associated Papers

Primary Ciliary Dyskinesia Associated Disease-Causing Variants in CCDC39 and CCDC40 Cause Axonemal Absence of Inner Dynein Arm Heavy Chains DNAH1, DNAH6, and DNAH7.

Wilken A et al.

Cells, 2024

39056782 (PubMed )
Supplement: cells-13-01200-s001.zip › cells-3014467-supplementary.pdf
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