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| Skeletal dysplasia v0.24 | POLR1D | Tiong Tan Added phenotypes Treacher Collins syndrome 2 613717 for gene: POLR1D | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.24 | POLR1D | Tiong Tan Added phenotypes Treacher Collins syndrome 2 613717 for gene: POLR1D | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.23 | POLR1D |
Tiong Tan Source Victorian Clinical Genetics Services was added to POLR1D. Added phenotypes Treacher Collins syndrome 2 613717 for gene: POLR1D |
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| Skeletal dysplasia v0.0 | POLR1D |
Zornitza Stark gene: POLR1D was added gene: POLR1D 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: POLR1D was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: POLR1D were set to Treacher Collins syndrome 2 613717 |
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