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Genome sequencing identifies KMT2E-disrupting cryptic structural variant in a female with O'Donnell-Luria-Rodan

Mona Hashim1, Helen Stewart2, Jing Yu1

  • 1Oxford NIHR Biomedical Research Centre, Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK.

Clinical Genetics
|May 9, 2023
PubMed

Keywords:
KMT2Ecrypticgenome-sequencingstructural variant

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