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Ancient gene mutation found to cause rare hereditary condition | NIHR Oxford Biomedical Research Centre
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Unique roles of rare variants in the genetics of complex diseases in humans | Journal of Human Genetics
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Provides an overview of rare genetic disease approach, in principle,... | Download Scientific Diagram
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NIH, FDA and 15 private organizations join forces to increase effective gene therapies for rare diseases | National Institutes of Health (NIH)
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New online resource helps connect rare genetic variants to human health and disease | Broad Institute
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Genome-wide rare variant analysis for thousands of phenotypes in over 70,000 exomes from two cohorts | Nature Communications
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The number of rare variant genes contributes to symptoms of genetic disease - Baylor College of Medicine Blog Network
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