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A collection of peer-reviewed inherited disease descriptions written by experts with extensive and thoughtful editing. It contains phenotypic information and information on selected variants, and its strength is in the clinical summaries it offers. The entries follow a standard format and focus on the clinical aspects of the disease including diagnosis, management and counseling. Unlike the OMIM format, GeneReviews reads like a medical textbook.

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GeneReviews classification

  • Animals
    • Homo sapiens

GeneReviews specifications

Restrictions to use:

GeneReviews support


  • GeneReviews Team <>

Link to literature

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