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1Academic Journal
Πηγή: Nauchno-prakticheskii zhurnal «Medicinskaia genetika». :21-28
Θεματικοί όροι: 0301 basic medicine, 0303 health sciences, ген RB1, экспрессивность, expressivity, 3. Good health, 03 medical and health sciences, высокопроизводительное параллельное секвенирование ДНК, NGS, низкопенетрантная мутация, пенетрантность, hereditary retinoblastoma, penetrance, 10. No inequality, наследственная ретинобластома, RB1, low-penetrant mutation
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2Academic Journal
Συγγραφείς: E. S. Fedorov, S. O. Salugina, E. Yu. Zakharova, E. A. Kamenets, A. N. Gerasimenko, Е. С. Федоров, С. О. Салугина, Е. Ю. Захарова, Е. А. Каменец, А. Н. Герасименко
Πηγή: Modern Rheumatology Journal; Том 14, № 3 (2020); 102-110 ; Современная ревматология; Том 14, № 3 (2020); 102-110 ; 2310-158X ; 1996-7012 ; 10.14412/1996-7012-2020-3
Θεματικοί όροι: канакинумаб, Tumor Necrosis Factor Receptor-Associated Periodic Syndrome, low-penetrance R92Q mutation, canakinumab, низкопенетрантная мутация R92Q
Περιγραφή αρχείου: application/pdf
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