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ERCC6L2-associated inherited bone marrow failure syndrome.
Shabanova I, Cohen E, Cada M, Vincent A, Cohn RD, Dror Y. Shabanova I, et al. Mol Genet Genomic Med. 2018 May;6(3):463-468. doi: 10.1002/mgg3.388. Epub 2018 Apr 6. Mol Genet Genomic Med. 2018. PMID: 29633571 Free PMC article. Review.
Reanalysing genomic data by normalized coverage values uncovers CNVs in bone marrow failure gene panels.
Lauhasurayotin S, Cuvelier GD, Klaassen RJ, Fernandez CV, Pastore YD, Abish S, Rayar M, Steele M, Jardine L, Breakey VR, Brossard J, Sinha R, Silva M, Goodyear L, Lipton JH, Michon B, Corriveau-Bourque C, Sung L, Shabanova I, Li H, Zlateska B, Dhanraj S, Cada M, Scherer SW, Dror Y. Lauhasurayotin S, et al. Among authors: shabanova i. NPJ Genom Med. 2019 Dec 9;4:30. doi: 10.1038/s41525-019-0104-9. eCollection 2019. NPJ Genom Med. 2019. PMID: 31839986 Free PMC article.
21 results