Improved Diagnosis of Rare Disease Patients through Systematic Detection of Runs of Homozygosity

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Improved Diagnosis of Rare Disease Patients through Systematic Detection of Runs of Homozygosity

Author: Matalonga, Leslie; Laurie, Steven; Papakonstantinou, Anastasios; Piscia, Davide; Mereu, Elisabetta; Bullich, Gemma; Thompson, Rachel; Horvath, Rita; Perez-Jurado, Luis; Riess, Olaf; Gut, Ivo; van Ommen, Gert-Jan; Lochmueller, Hanns; Beltran, Sergi
Tübinger Autor(en):
Rieß, Olaf
Published in: Journal of Molecular Diagnostics (2020), Bd. 22, H. 9, S. 1205-1215
Verlagsangabe: Elsevier Science Inc
Language: English
Full text: http://dx.doi.org/10.1016/j.jmoldx.2020.06.008
ISSN: 1943-7811
DDC Classifikation: 610 - Medicine and health
Dokumentart: Article
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