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Conference Abstracts

Olive M; Stevanovski I; Gonzalez Quereda L; Morris G; Segarra-Casas A; Rodriguez-Santiago B; Gallano P; Alvarez R; Vesperinas A; San Millan B; Navarro C; Ravenscroft G; Illa I; Deveson I; Gallardo E, 2022, 'Novel repeat expansions in PLIN4 in two Spanish families suffering from autosomal dominant distal myopathy with unique pathological features', in NEUROMUSCULAR DISORDERS, PERGAMON-ELSEVIER SCIENCE LTD, Vol. 32, pp. S110 - S110, http://dx.doi.org/10.1016/j.nmd.2022.07.284

French HJ; Anderson S; Deveson IW; Stevanovski I; Nelson A; Matthews S; Gou M; Cheong PL; Trent RJ; Ho PJ, 2022, 'Characterising complex rearrangements with long-read sequencing in thalassaemia', in Pathology, Elsevier BV, Vol. 54, pp. S73 - S74, http://dx.doi.org/10.1016/j.pathol.2021.12.242


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