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Details on Person Dissecting KMT2D missense mutations in Kabuki syndrome patients

Class:IdLiteratureReference:9945005
_displayNameDissecting KMT2D missense mutations in Kabuki syndrome patients
_timestamp2025-04-08 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
journalHum Mol Genet
pages3651-3668
pubMedIdentifier30107592
titleDissecting KMT2D missense mutations in Kabuki syndrome patients
volume27
year2018
(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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No pathways have been reviewed or authored by Dissecting KMT2D missense mutations in Kabuki syndrome patients (9945005)