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References from Current translational perspectives for diagnosis and individualized therapy in rare genetic diseases. Local targets link to admitted publications; unresolved targets remain external evidence.
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10.1038/s41431-019-0508-0 · 2020 · External reference
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10.1038/s41431-024-01604-z · 2024 · External reference
10.1186/s13073-022-01026-w
10.1186/s13073-022-01026-w · 2022 · External reference
10.1002/ajmg.a.63904
10.1002/ajmg.a.63904 · 2025 · External reference
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10.1038/s41525-024-00396-x · External reference
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10.1016/j.cell.2019.02.040
10.1016/j.cell.2019.02.040 · 2019 · External reference
10.1056/nejmoa1516767
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10.1186/s13073-023-01240-0 · External reference
10.1038/s41586-020-2434-2
10.1038/s41586-020-2434-2 · 2020 · External reference
10.1016/j.ajhg.2017.04.015
10.1016/j.ajhg.2017.04.015 · 2017 · External reference
10.1038/gim.2015.30
10.1038/gim.2015.30 · 2015 · External reference
10.1093/nar/gkaa1043
10.1093/nar/gkaa1043 · 2021 · External reference
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10.1093/nar/gkad1005 · 2024 · External reference
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10.1038/s41436-021-01242-6
10.1038/s41436-021-01242-6 · 2021 · External reference
10.1016/j.ajhg.2010.04.006
10.1016/j.ajhg.2010.04.006 · 2010 · External reference
10.1097/gim.0b013e3181f8baad
10.1097/gim.0b013e3181f8baad · 2010 · External reference
10.1016/j.ajhg.2019.08.009
10.1016/j.ajhg.2019.08.009 · 2019 · External reference
10.1001/jamapediatrics.2021.3496
10.1001/jamapediatrics.2021.3496 · 2021 · External reference
10.1056/nejmoa2314761
10.1056/nejmoa2314761 · 2024 · External reference
10.1056/nejmoa2035790
10.1056/nejmoa2035790 · 2021 · External reference
10.1016/j.gim.2024.101075
10.1016/j.gim.2024.101075 · 2024 · External reference
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10.1002/humu.22858
10.1002/humu.22858 · 2015 · External reference
10.3390/ijms25021014
10.3390/ijms25021014 · 2024 · External reference
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10.1186/s13023-014-0195-4
10.1186/s13023-014-0195-4 · 2015 · External reference
10.3390/ijms22020673
10.3390/ijms22020673 · 2021 · External reference
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10.1038/sdata.2016.18
10.1038/sdata.2016.18 · 2016 · External reference
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10.1016/j.xgen.2021.100029
10.1016/j.xgen.2021.100029 · 2021 · External reference
10.1016/s0140-6736(25)00211-9
10.1016/s0140-6736(25)00211-9 · 2025 · External reference
10.1056/nejmoa1702752
10.1056/nejmoa1702752 · 2017 · External reference
10.1056/nejmoa1710504
10.1056/nejmoa1710504 · 2018 · External reference
10.1056/nejmoa2009965
10.1056/nejmoa2009965 · 2021 · External reference
10.1056/nejmoa1813279
10.1056/nejmoa1813279 · 2019 · External reference
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10.1056/nejmoa1716153 · 2018 · External reference
10.1056/nejmoa2021712
10.1056/nejmoa2021712 · 2021 · External reference
10.1056/nejmoa1913147
10.1056/nejmoa1913147 · 2020 · External reference
10.1016/s0140-6736(17)31868-8
10.1016/s0140-6736(17)31868-8 · 2017 · External reference
10.1056/nejmoa1706198
10.1056/nejmoa1706198 · 2017 · External reference
10.1056/nejmoa2031054
10.1056/nejmoa2031054 · 2021 · External reference
10.1056/nejmoa2309676
10.1056/nejmoa2309676 · 2024 · External reference
10.1056/nejmoa2309673
10.1056/nejmoa2309673 · 2024 · External reference
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10.1093/annonc/mdw413
10.1093/annonc/mdw413 · 2017 · External reference
10.1038/s41467-024-54077-5
10.1038/s41467-024-54077-5 · 2024 · External reference
10.1089/nat.2021.0035
10.1089/nat.2021.0035 · 2022 · External reference
10.1038/s41591-021-01519-y
10.1038/s41591-021-01519-y · 2021 · External reference
10.1056/nejmsb2512695
10.1056/nejmsb2512695 · 2025 · External reference
10.1016/j.ymthe.2025.12.032
10.1016/j.ymthe.2025.12.032 · 2026 · External reference
10.1038/s41434-020-0143-y
10.1038/s41434-020-0143-y · 2021 · External reference
10.1534/genetics.117.203067
10.1534/genetics.117.203067 · 2017 · External reference
10.1186/s13023-021-01839-9
10.1186/s13023-021-01839-9 · 2021 · External reference
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10.1016/s0140-6736(25)00986-9
10.1016/s0140-6736(25)00986-9 · 2025 · External reference
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10.1038/s41591-025-04103-w
10.1038/s41591-025-04103-w · 2026 · External reference
10.1056/nejmoa2204705
10.1056/nejmoa2204705 · 2022 · External reference
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10.1002/ana.25934
10.1002/ana.25934 · 2021 · External reference
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10.1101/gr.279970.124
10.1101/gr.279970.124 · 2025 · External reference
10.1101/gr.279227.124
10.1101/gr.279227.124 · 2024 · External reference
10.1016/j.ajhg.2021.05.012
10.1016/j.ajhg.2021.05.012 · 2021 · External reference
10.1038/s41436-020-0827-0
10.1038/s41436-020-0827-0 · 2020 · External reference
10.1186/s13073-025-01467-z
10.1186/s13073-025-01467-z · 2025 · External reference
10.1038/s41525-025-00487-3
10.1038/s41525-025-00487-3 · 2025 · External reference
