pathogenic variant

Allele frequency analysis of variants reported to cause autosomal dominant inherited retinal diseases question the involvement of 19% of genes and 10% of reported pathogenic variants
Mor Hanany, Dror Sharon

Journal of Medical Genetics Aug 2019, 56 (8) 536-542; DOI: 10.1136/jmedgenet-2018-105971
Bayesian approach to determining penetrance of pathogenic SDH variants
Diana E Benn, Ying Zhu, Katrina A Andrews, Mathilda Wilding, Emma L Duncan, Trisha Dwight, Richard W Tothill, John Burgess, Ashley Crook, Anthony J Gill, Rodney J Hicks, Edward Kim, Catherine Luxford, Helen Marfan, Anne Louise Richardson, Bruce Robinson, Arran Schlosberg, Rachel Susman, Lyndal Tacon, Alison Trainer, Katherine Tucker, Eamonn R Maher, Michael Field, Roderick J Clifton-Bligh

Journal of Medical Genetics Nov 2018, 55 (11) 729-734; DOI: 10.1136/jmedgenet-2018-105427

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pathogenic variant