Query author contributions in Reactome
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Details on Person KMT2D E1571Sfs*5 [nucleoplasm]
| Class:Id | EntityWithAccessionedSequence:9952537 |
|---|---|
| _displayName | KMT2D E1571Sfs*5 [nucleoplasm] |
| _timestamp | 2025-05-28 04:35:38 |
| compartment | [Compartment:7660] nucleoplasm |
| created | [InstanceEdit:9952587] Orlic-Milacic, Marija, 2025-05-28 |
| crossReference | [DatabaseIdentifier:9952528] ClinVar:VCV000547423 |
| disease | [Disease:9944973] Kabuki syndrome |
| endCoordinate | 1574 |
| hasModifiedResidue | [FragmentReplacedModification:9952317] Replacement of residues 1571 to 1574 by SWCP |
| name | KMT2D E1571Sfs*5 |
| referenceEntity | [ReferenceGeneProduct:95334] UniProt:O14686 KMT2D [Homo sapiens] |
| species | [Species:48887] Homo sapiens |
| stableIdentifier | [StableIdentifier:9952988] R-HSA-9952537.1 |
| startCoordinate | 1 |
| (hasCandidate) | [CandidateSet:9945024] KMT2D LOF variants (WRAD binding) [nucleoplasm] [Homo sapiens] |
| [Change default viewing format] | |
No pathways have been reviewed or authored by KMT2D E1571Sfs*5 [nucleoplasm] (9952537)
