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Transplant Co-Morbidity Superpanel v0.0 | CASR |
Bryony Thompson gene: CASR was added gene: CASR was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list Mode of inheritance for gene: CASR was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: CASR were set to 22620673 Phenotypes for gene: CASR were set to severe hypercalcemia, bone demineralization, multiple fractures; Hyperparathyroidism, neonatal, MIM# 239200 |