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| Skeletal dysplasia v0.0 | PIK3R1 |
Zornitza Stark gene: PIK3R1 was added gene: PIK3R1 was added to Skeletal dysplasia. Sources: UKGTN,NHS GMS,Expert list,Expert Review Green Mode of inheritance for gene: PIK3R1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PIK3R1 were set to SHORT syndrome 269880 |
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