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- ... variants impair the transporter protein's ability to bring creatine into cells, resulting in a shortage (deficiency) ...
- ... to drugs that would trigger a reaction and bring them to medical attention. Certain variations of the ...
- ... CIITA protein interacts with the RFX complex and brings together other proteins that turn on gene transcription, ...
- ... no related health or developmental problems that would bring them to medical attention. People with a 1q21. ...
- ... breathing (dyspnea), chest pain, and coughing, which may bring up blood (hemoptysis). Many women with this disorder ...
- ... genes are involved in endocytosis, a process that brings substances into the cell. The protein produced from ...
- ... from a rearrangement (translocation) of genetic material that brings part of the PDGFRB gene on chromosome 5 ...
- ... transports carnitine into cells. Cells need carnitine to bring certain types of fats (fatty acids) into mitochondria, ...
- ... breathing (hyperventilation), or choking. It is unclear what brings on seizures in people with ADNFLE. Episodes may ...
- ... deletion of genetic material from chromosome 4, which brings together part of the PDGFRA gene and part ...