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
Gene Reviews: Searchable Database of Genetic Disorders
https://www.ncbi.nlm.nih.gov/gtr/
GeneReviews are expert-authored, peer-reviewed, current disease descriptions that apply genetic testing to the diagnosis, management, and genetic counseling of patients and families with specific inherited conditions.
