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| Leukodystrophy v0.375 | Bryony Thompson Copied gene RPS6KA3 from panel Leukodystrophy - adult onset | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy v0.375 | RPS6KA3 |
Bryony Thompson gene: RPS6KA3 was added gene: RPS6KA3 was added to Leukodystrophy - paediatric. Sources: Expert Review Red,Royal Melbourne Hospital Mode of inheritance for gene: RPS6KA3 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: RPS6KA3 were set to 16691578 Phenotypes for gene: RPS6KA3 were set to Coffin-Lowry syndrome, 303600 |
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