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Distinct patterns of complex rearrangements and a mutational signature of microhomeology are frequently observed in PLP1 copy number gain structural variants
2019 |
Second Faculty of Medicine
publication
Complex Genomic Rearrangements at the PLP1 Locus Include Triplication and Quadruplication
2015 |
Second Faculty of Medicine
publication
Mechanisms for Nonrecurrent Genomic Rearrangements Associated with CMT1A or HNPP: Rare CNVs as a Cause for Missing Heritability
2010 |
Second Faculty of Medicine