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Image Search Results


Case-only subphenotype analyses

Journal: Genetics in Medicine

Article Title: Quantifying evidence toward pathogenicity for rare phenotypes: The case of succinate dehydrogenase genes, SDHB and SDHD

doi: 10.1016/j.gim.2021.08.004

Figure Lengend Snippet: Case-only subphenotype analyses

Article Snippet: The Ambry data set comprised per-variant summary results from clinical testing for SDHx undertaken at Ambry Genetics of 1338 PCC/PGL cases referred from the US clinical genetics and endocrinology centers from 2012-2020.

Techniques: Isolation