Varaico: Literature-Extracted Genetic Variants

Gene:CCDC40
Variant:p.R942fs
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CCDC40

NM_017950.4:p.R942fs

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

Clinical utility of NGS diagnosis and disease stratification in a multiethnic primary ciliary dyskinesia cohort.

Fassad MR et al.

Journal of Medical Genetics, 2020

Clinical and genetic spectrum in 33 Egyptian families with suspected primary ciliary dyskinesia.

Fassad MR et al.

Clinical Genetics, 2020

Clinical and Genetic Analysis of Children with Kartagener Syndrome.

Pereira R et al.

Cells, 2019

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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."