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Ataxia - paediatric v0.0 | NPHP1 |
Bryony Thompson gene: NPHP1 was added gene: NPHP1 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: NPHP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NPHP1 were set to Joubert syndrome 4 |