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| Respiratory ciliopathies including non-CF bronchiectasis v1.49 | PLK4 | Sarah Leigh Publications for gene: PLK4 were set to 22503633; 34556108 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v1.48 | PLK4 |
Sarah Leigh gene: PLK4 was added gene: PLK4 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: Literature Mode of inheritance for gene: PLK4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PLK4 were set to 22503633; 34556108 Phenotypes for gene: PLK4 were set to Microcephaly and chorioretinopathy, autosomal recessive 2 OMIM:616171; microcephaly and chorioretinopathy 2 MONDO:0014516 Review for gene: PLK4 was set to RED Added comment: Two PLK4 variants reported in a case of primary ciliary dyskinesia (PMID: 34556108). Sources: Literature |
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