THE EFFECTIVENESS OF PTPN11 GENE ANALYSIS IN THE PRENATAL DIAGNOSIS OF NOONAN SYNDROME/NOONAN SENDRO...
THE EFFECTIVENESS OF PTPN11 GENE ANALYSIS IN THE PRENATAL DIAGNOSIS OF NOONAN SYNDROME/NOONAN SENDROMU'NUN PRENATAL TANISINDA PTPN11 GEN ANALIZLERININ ETKINLIGI
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AVES
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English
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AVES
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Objective: Dominant pathogenic variants in 29 RAS-MAPK (Rat-sarcoma-Mitogen-activated-protein-kinase) pathway genes, important for the regulation of cell growth, differentiation, aging and cell-cycle, are responsible for RASopathies, Noonan syndrome (NS) is the most common form. PTPN11 variants are detected in 50% of the cases, 90% being identified...
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Full title
THE EFFECTIVENESS OF PTPN11 GENE ANALYSIS IN THE PRENATAL DIAGNOSIS OF NOONAN SYNDROME/NOONAN SENDROMU'NUN PRENATAL TANISINDA PTPN11 GEN ANALIZLERININ ETKINLIGI
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TN_cdi_gale_infotracmisc_A653370116
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_gale_infotracmisc_A653370116
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ISSN
1305-6433
DOI
10.26650/IUITFD.2020.803356
