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| Skeletal ciliopathies v0.1 | IFT140 |
Eleanor Williams gene: IFT140 was added gene: IFT140 was added to Skeletal ciliopathies. Sources: Other,Expert list,UKGTN,Radboud University Medical Center, Nijmegen,Orphanet,Expert Review Green,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: IFT140 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IFT140 were set to 22503633 Phenotypes for gene: IFT140 were set to Saldino-Mainzer syndrome; Jeune syndrome; Short-rib thoracic dysplasia 9 with or without polydactyly, 266920; Mainzer-Saldino Syndrome; Short-rib thoracic dysplasia 9 with or without polydactyly |
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