WebRare diseases are not rare. About 30 million people in the U.S. are affected by a rare disease. As you and your caregivers adjust to a rare disease diagnosis, it is normal to be flooded with a wide range of emotions. Navigating unexpected challenges, coordinating care, and handling financial concerns may feel overwhelming. WebClinVar archives and aggregates information about relationships among variation and human health.

NM_000277.3(PAH):c.-81C>T AND Phenylketonuria - ClinVar - NCBI

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On the Scent: The Discovery of PKU Science History Institute

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