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Haplotype information of large neuromuscular disease genes provided by linked-read sequencing has a potential to increase diagnostic yield by Johanna Lehtonen, Anna-Maija Sulonen, Henrikki Almusa, Vilma-Lotta Lehtokari, Mridul Johari, Aino Palva, Anna H. Hakonen, Kirmo Wartiovaara, Anna-Elina Lehesjoki, Bjarne Udd, Carina Wallgren-Pettersson, Katarina Pelin, Marco Savarese, Janna Saarela
Published 2024-02-01
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mtDNA nt13708A variant increases the risk of multiple sclerosis. by Xinhua Yu, Dirk Koczan, Anna-Maija Sulonen, Denis A Akkad, Antje Kroner, Manuel Comabella, Gianna Costa, Daniela Corongiu, Robert Goertsches, Montserrat Camina-Tato, Hans-Juergen Thiesen, Harald I Nyland, Sverre J Mørk, Xavier Montalban, Peter Rieckmann, Maria G Marrosu, Kjell-Morten Myhr, Joerg T Epplen, Janna Saarela, Saleh M Ibrahim
Published 2008-02-01
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