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Ataxia - paediatric v0.192 | PNKP | Zornitza Stark Marked gene: PNKP as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ataxia - paediatric v0.192 | PNKP | Zornitza Stark Gene: pnkp has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ataxia - paediatric v0.192 | PNKP | Zornitza Stark Publications for gene: PNKP were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ataxia - paediatric v0.0 | PNKP |
Bryony Thompson gene: PNKP was added gene: PNKP was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: PNKP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PNKP were set to Microcephaly, seizures and developmental delay, 613402; Ataxia-oculomotor apraxia 4, 616267; Ataxia with oculomotor apraxia 4 (#616267) |