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

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Date: June 26, 2023
Authors:
Alexandre Buffet, Alice Garrett, Alison Callaway, Amal Yussuf, Andrew Wallace, Anne-Paule Gimenez-Roqueplo, Beth Torr, Carrie Horton, Chey Loveday, Clare Turnbull, Diana Eccles, Eamonn R. Maher, Emma R Woodward, Francesco Mazzarotto, George J. Burghel, Helen Hanson, Holly Laduca, Ian Berry, James Drummond, James S. Ware, Katie Snape, Katrina Tatton-Brown, Laura King, Louise Izatt, Marc Tischkowitz, Miranda Durkie, Nelly Burnichon, Nicola Whiffin, Rachel Robinson, Samantha Butler, Subin Choi, Terri McVeigh, Tina Pesaran, MA, MS, CGC
Journal: Genetic Medicine
Journal Volume: 24