Varaico: Literature-Extracted Genetic Variants

Gene:CCDC40
Variant:p.Y332insFs
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CCDC40

NM_017950.4:p.Y332insFs

Associated Papers

Analysis of clinically relevant variants from ancestrally diverse Asian genomes.

Chan SH et al.

Nature Communications, 2022

36335097 (PubMed )
Supplement: 41467_2022_34116_MOESM4_ESM.zip › NCOMMS-22-14716A_SupplementaryData › NCOMM-22-14716A_SupplementaryData_2.xlsx › SuppData_2

Pathogenic variants identified using whole-exome sequencing in Chinese patients with primary ciliary dyskinesia.

Ye Y et al.

American Journal of Medical Genetics. Part A, 2022

Clinical and genetic features of primary ciliary dyskinesia in a cohort of consecutive clinically suspect children in western China.

Li Y et al.

Bmc Pediatrics, 2022

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