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Skeletal dysplasia v0.0 | PEX7 |
Zornitza Stark gene: PEX7 was added gene: PEX7 was added to Skeletal dysplasia. Sources: NHS GMS,Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Green,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: PEX7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PEX7 were set to 28742517; 7719337; 25800479 Phenotypes for gene: PEX7 were set to Rhizomelic CDP type 1; Rhizomelic chondrodysplasia punctata, type 1, 215100 |