Integrated targeted whole-genome and RNA-sequencing analysis of an intronic GNE variant in GNE myopathy. - Toide N; Iwase R; Yanagidaira M; Togi S; Ura H; Egawa M; Takamine E; Kuwahara H; Misawa S; Yoshida M; Niida Y; Ishiguro T (Human genome variation, 2026)