Activity
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| Skeletal dysplasia v0.0 | NEK1 |
Zornitza Stark gene: NEK1 was added gene: NEK1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: NEK1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NEK1 were set to Short rib thoracic dysplasia 6 with or without polydactyly - 263520; Short rib-polydactyly syndrome, type IIA, 263520; Short Rib Polydactyly Syndrome; SRPS type 2 (Majewski) |
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