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| Skeletal dysplasia v0.0 | P4HB |
Zornitza Stark gene: P4HB was added gene: P4HB was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review,Expert Review Green Mode of inheritance for gene: P4HB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: P4HB were set to 25683117; 29384951; 30063094 Phenotypes for gene: P4HB were set to Cole-Carpenter syndrome 1 112240; Cole-Carpenter syndrome 1 112240 Mode of pathogenicity for gene: P4HB was set to Other |
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