Activity
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| Skeletal dysplasia v0.0 | GNPAT |
Zornitza Stark gene: GNPAT was added gene: GNPAT was added to Skeletal dysplasia. Sources: NHS GMS,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Expert Review Green Mode of inheritance for gene: GNPAT was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GNPAT were set to RCDP2; Rhizomelic Chondrodysplasia Punctata; Rhizomelic chondrodysplasia punctata type 2; Chondrodysplasia punctata, rhizomelic, type 2, 222765 |
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