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| Skeletal dysplasia v0.0 | THPO |
Zornitza Stark gene: THPO was added gene: THPO was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Red,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: THPO was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: THPO were set to 22453305; 19553636 Phenotypes for gene: THPO were set to Thrombocythemia 1 187950 (rare presentation with congenital limb defects) Mode of pathogenicity for gene: THPO was set to Other - please provide details in the comments |
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