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Ataxia - paediatric v0.0 | CEP290 |
Bryony Thompson gene: CEP290 was added gene: CEP290 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: CEP290 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CEP290 were set to Joubert syndrome 5 |