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Novel intronic variant in PALB2 gene and effective prevention of Fanconi anemia in family |
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| Authors: | Viakhireva I Musatova E Bessonova L Shcherbatyuk Y Korobkov S Zhikriveckaya S Sofronova Ya Mironova I Khmelkova D Konovalov F Baranova A Pomerantseva E Skoblov M |
| Affiliation: | 1.Research Centre for Medical Genetics, Moskvorechie, 1, Moscow, Russian Federation, 115522 ;2.Center of Genetics and Reproductive Medicine “Genetico”, LLC, 3 b1, Gubkina str, Moscow, Russian Federation, 119333 ;3.Hospital Lapino, MD Medical Group, 111, 1-Ye Uspenskoye Shosse, Lapino, Moskovskaya region, Russian Federation, 143081 ;4.Genomed, Ltd, 8 b5, Podol’skoye Shosse, Moscow, Russian Federation, 115093 ;5.Chronic Metabolic and Rare Diseases Systems Biology Initiative (ChroMe RaDSBIn), School of Systems Biology, George Mason University, 4400 University Dr, Fairfax, VA, 22030, USA ; |
| Abstract: | Familial Cancer - Despite the acceptance of NextGen sequencing as a diagnostic modality suitable for probands and carriers of Mendelian diseases, its efficiency in identifying causal mutations is... |
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| 本文献已被 SpringerLink 等数据库收录！ | |
