- Disease-causing germline mutation(s) in Isolated delta-storage pool disease
- Part of a fusion gene in Ewing sarcoma
- Part of a fusion gene in Extraskeletal Ewing sarcoma
- Part of a fusion gene in Peripheral primitive neuroectodermal tumor
- Role in the phenotype of Jacobsen syndrome
- Role in the phenotype of Paris-Trousseau thrombocytopenia
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.