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| Skeletal dysplasia v0.0 | PLEKHM1 |
Zornitza Stark gene: PLEKHM1 was added gene: PLEKHM1 was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Red Mode of inheritance for gene: PLEKHM1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: PLEKHM1 were set to 17997709; 17404618; 27291868 Phenotypes for gene: PLEKHM1 were set to Osteopetrosis, autosomal recessive 6 - 611497; Osteopetrosis, autosomal recessive 6 611497; Osteopetrosis, autosomal dominant 3 - 618107 |
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