Haplotype information of large neuromuscular disease genes provided by linked-read sequencing has a potential to increase diagnostic yield

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

Research output: Contribution to journal › Article › peer-review

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Biochemistry, Genetics and Molecular Biology

Neuroscience