Gene–disease relationship evidence: A clinical perspective focusing on ultra‐rare diseases
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DOI: 10.1002/humu.24367
Abstract: The ACMG framework for variant interpretation is well‐established and widely used. Although formal guidelines have been published on the establishment of the gene–disease relationships as well, these are not nearly as widely acknowledged or utilized,… read more here.
Keywords: disease relationship; gene disease; relationship evidence; disease relationships ... See more keywords