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| Skeletal dysplasia v0.0 | CEP290 |
Zornitza Stark gene: CEP290 was added gene: CEP290 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: CEP290 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CEP290 were set to Bardet-Biedl syndrome 14 615991; Leber congenital amaurosis 10; Joubert syndrome 5 610188; Meckel syndrome 4 611134; Senior-Loken syndrome 6 610189 |
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