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Details on Person A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome
| Class:Id | LiteratureReference:9944961 |
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| _displayName | A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome |
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| _timestamp | 2025-04-08 17:32:43 |
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| author | [Person:9944950] Cuvertino, Sara
[Person:9944957] Hartill, Verity
[Person:9944968] Colyer, Alice
[Person:9944938] Garner, Terence
[Person:8862353] Nair, Nisha
[Person:508046] Al-Gazali, Lihadh
[Person:9944987] Canham, Natalie
[Person:9944963] Faundes, Victor
[Person:9944942] Flinter, Frances
[Person:9677277] Hertecant, Jozef
[Person:3322912] Holder-Espinasse, Muriel
[Person:8849284] Jackson, Brian
[Person:3247907] Lynch, Sally Ann
[Person:9944965] Nadat, Fatima
[Person:9944936] Narasimhan, Vagheesh M
[Person:9944948] Peckham, Michelle
[Person:9944972] Sellers, Robert
[Person:9841221] Seri, Marco
[Person:9944974] Montanari, Francesca
[Person:9944981] Southgate, Laura
[Person:9944959] Squeo, Gabriella Maria
[Person:9944935] Trembath, Richard
[Person:9944962] van Heel, David
[Person:9944937] Venuto, Santina
[Person:9944953] Weisberg, Daniel
[Person:9944946] Stals, Karen
[Person:5621894] Ellard, Sian
[Person:9944947] Genomics England Research Consortium, -
[Person:9944985] Barton, Anne
[Person:9944980] Kimber, Susan J
[Person:3165231] Sheridan, Eamonn
[Person:9857005] Merla, Giuseppe
[Person:9944969] Stevens, Adam
[Person:5624674] Johnson, Colin A
[Person:3276577] Banka, Siddharth |
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| created | [InstanceEdit:9944952] Orlic-Milacic, Marija, 2025-04-08 |
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| journal | Genet Med |
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| pages | 867-877 |
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| pubMedIdentifier | 31949313 |
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| title | A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome |
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| volume | 22 |
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| year | 2020 |
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| (literatureReference) | [Pathway:9944971] Loss of Function of KMT2D in Kabuki Syndrome [Homo sapiens]
[Summation:9944986] Loss of function mutations in histone-lysine-N-methyltran... |
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No pathways have been reviewed or authored by A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome (9944961)
