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Primary ciliary disorders v1.22 | TTC12 |
Zornitza Stark gene: TTC12 was added gene: TTC12 was added to Primary ciliary disorders. Sources: Literature Mode of inheritance for gene: TTC12 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TTC12 were set to 31978331 Phenotypes for gene: TTC12 were set to Ciliary dyskinesia Review for gene: TTC12 was set to GREEN gene: TTC12 was marked as current diagnostic Added comment: Four unrelated families with LoF variants reported with a respiratory phenotype. Sources: Literature |