Activity
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4 actions
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| Childhood onset dystonia, chorea or related movement disorder v0.239 | NPC1 | Louise Daugherty Phenotypes for gene: NPC1 were changed from Niemann-Pick disease, type C1; Niemann-Pick disease, type D to Niemann-Pick disease, type C1, 257220; Niemann-Pick disease, type D, 257220 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset dystonia, chorea or related movement disorder v0.85 | NPC1 | Ellen McDonagh Phenotypes for gene: NPC1 were changed from to Niemann-Pick disease, type C1; Niemann-Pick disease, type D | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset dystonia, chorea or related movement disorder v0.84 | NPC1 | Ellen McDonagh Mode of inheritance for gene: NPC1 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset dystonia, chorea or related movement disorder v0.0 | NPC1 |
Ellen McDonagh gene: NPC1 was added gene: NPC1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: NPC1 was set to |
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