Shared Runs of Heterozygosity Mapping using whole genome sequencing reveals a complex structural variant in GSN causing novel cutaneous-visceral organ Gelsolin amyloidosis

Jackson, A; Sobey, G; Wechalekar, A; Rowczenio, D; Beaman, G; McMahon, R; Khan, U; Miles, E; Goldman, A; Lovell, S; Clayton-Smith, J; Banka, S

EUROPEAN JOURNAL OF HUMAN GENETICS, 2022; 30 (SUPPL 1): 155