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| Skeletal dysplasia v0.0 | CSPP1 |
Zornitza Stark gene: CSPP1 was added gene: CSPP1 was added to Skeletal dysplasia. Sources: NHS GMS,Other,Expert Review Green Mode of inheritance for gene: CSPP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CSPP1 were set to 24360803; 24360808 Phenotypes for gene: CSPP1 were set to ORPHA:475 Joubert syndrome; Joubert syndrome 21 615636; ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy; Joubert syndrome 21 615636; ORPHA:564 Meckel syndrome |
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