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Abstract Disclaimer: These recommendations are designed primarily as an educational resource for medical geneticists and other healthcare providers to help them provide quality medical services. Adherence to these recommendations is completely voluntary and does not necessarily assure a successful medical outcome.
There exist 5,000–7,000 rare genetic diseases, each of which harbors considerable clinical variability. None are common individually. In addition, more common diseases with genetic influences may have rare variants associated with them. Vast allelic heterogeneity lies at the foundation of most genetic diseases, the effects of which are compounded by background genomic variation that may further affect clinical presentation.
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