Varaico: Literature-Extracted Genetic Variants

Gene:CCNO
Variant:p.Q88insFs
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CCNO

NM_021147.5:p.Q88insFs

Associated Papers

Two Japanese Pediatric Patients With Primary Ciliary Dyskinesia Caused by Loss-of-Function Variants in the CCNO gene.

Xu Y et al.

Cureus, 2024

Bi-allelic mutations in MCIDAS and CCNO cause human infertility associated with abnormal gamete transport.

Ma C et al.

Clinical Genetics, 2021

Establishment of an induced pluripotent stem cell line from a patient with primary ciliary dyskinesia carrying biallelic mutations in CCNO.

Xu X et al.

Stem Cell Research, 2021

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1841.646
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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."