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| Retinitis pigmentosa_Autosomal Recessive/X-linked v0.10 | EMC1 | Bryony Thompson reviewed gene: EMC1: Rating: AMBER; Mode of pathogenicity: None; Publications: 29271071; Phenotypes: Retinitis pigmentosa; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 | EMC1 |
Bryony Thompson gene: EMC1 was added gene: EMC1 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Expert Review Amber,Royal Melbourne Hospital Mode of inheritance for gene: EMC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EMC1 were set to 29271071; 23105016 Phenotypes for gene: EMC1 were set to ?Retinitis pigmentosa; Cerebellar atrophy, visual impairment, and psychomotor retardation |
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