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Skeletal dysplasia v0.0 | POLR1C |
Zornitza Stark gene: POLR1C was added gene: POLR1C was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: POLR1C was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: POLR1C were set to Treacher Collins syndrome 3 248390 |