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| Prepair 500+ v0.0 | RYR1 |
Seb Lunke gene: RYR1 was added gene: RYR1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: RYR1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RYR1 were set to PMID: 16917943, PMID: 23919265, PMID: 30155738, PMID: 27855725 Phenotypes for gene: RYR1 were set to Central core disease, MIM# 117000; Neuromuscular disease, congenital, with uniform type 1 fiber, MIM# 117000 |
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