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Paper Details

Reanalysing genomic data by normalized coverage values uncovers CNVs in bone marrow failure gene panels.
NPJ Genom Med
3
2019
CNVs, Diamond Blackfan, Diamond Blackfan anemia, FANCA, GATA2, GATA2 deletion, GATA2-related disorder, IBMFS, IBMFS genes, IBMFSs, Inherited bone marrow failure syndromes, PARN genes, RBM8A, RPL11, RPL5, RPS19, bone marrow failure, cancer, cytopenia, myelodysplastic syndrome, pathogenic point variants, patient, patients, physical malformations, syndromic
Author NameAffiliation
Geoffrey D E CuvelierUniversity of Manitoba
Sharon AbishMontreal Children's Hospital
Lillian SungResearch Institute, The Hospital for Sick Children
Stephen W SchererThe Hospital for Sick Children
Stephen W SchererUniversity of Toronto
Stephen W SchererThe Hospital for Sick Children
Stephen W SchererUniversity of Toronto
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