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Details on Person Dissecting KMT2D missense mutations in Kabuki syndrome patients
| Class:Id | LiteratureReference:9945005 |
| _displayName | Dissecting KMT2D missense mutations in Kabuki syndrome patients |
| _timestamp | 2025-04-08 17:44:28 |
| author | [Person:9944999] Cocciadiferro, Dario [Person:9945003] Augello, Bartolomeo [Person:9945004] De Nittis, Pasquelena [Person:9945006] Zhang, Jiyuan [Person:9665510] Mandriani, Barbara [Person:9944998] Malerba, Natascia [Person:9945008] Squeo, Gabriella M [Person:9945002] Romano, Alessandro [Person:9945009] Piccinni, Barbara [Person:9945010] Verri, Tiziano [Person:9945000] Micale, Lucia [Person:6800265] Pasqualucci, Laura [Person:9857005] Merla, Giuseppe |
| created | [InstanceEdit:9945007] Orlic-Milacic, Marija, 2025-04-08 |
| journal | Hum Mol Genet |
| pages | 3651-3668 |
| pubMedIdentifier | 30107592 |
| title | Dissecting KMT2D missense mutations in Kabuki syndrome patients |
| volume | 27 |
| year | 2018 |
| (literatureReference) | [Summation:9945001] The entire C-terminal region of histone-lysine-N-methyltr... [Summation:9945023] SUMMARY FOR MISSENSE VARIANTS Missens... [EntityWithAccessionedSequence:9945062] KMT2D H5059Y [nucleoplasm] [Homo sapiens] [EntityWithAccessionedSequence:9945066] KMT2D H5059R [nucleoplasm] [Homo sapiens] [EntityWithAccessionedSequence:9945069] KMT2D H5059P [nucleoplasm] [Homo sapiens] [EntityWithAccessionedSequence:9946430] KMT2D G5189R [nucleoplasm] [Homo sapiens] [EntityWithAccessionedSequence:9946431] KMT2D T5098P [nucleoplasm] [Homo sapiens] [EntityWithAccessionedSequence:9946443] KMT2D W5217R [nucleoplasm] [Homo sapiens] [EntityWithAccessionedSequence:9946447] KMT2D R5340Q [nucleoplasm] [Homo sapiens] [EntityWithAccessionedSequence:9946502] KMT2D E5425K [nucleoplasm] [Homo sapiens] |
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