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| Skeletal dysplasia v0.0 | PCYT1A |
Zornitza Stark gene: PCYT1A was added gene: PCYT1A was added to Skeletal dysplasia. Sources: NHS GMS,Radboud University Medical Center, Nijmegen,Expert list,Expert Review Green Mode of inheritance for gene: PCYT1A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PCYT1A were set to Spondylometaphyseal dysplasia with cone-rod dystrophy 608940; Spondylometaphyseal dysplasia with cone-rod dystrophy 608940 |
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