Query author contributions in Reactome
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Details on Person KMT2D M999Yfs*69 [nucleoplasm]
| Class:Id | EntityWithAccessionedSequence:9949980 |
|---|---|
| _displayName | KMT2D M999Yfs*69 [nucleoplasm] |
| _timestamp | 2025-05-27 13:24:46 |
| compartment | [Compartment:7660] nucleoplasm |
| created | [InstanceEdit:9949985] Orlic-Milacic, Marija, 2025-05-27 |
| disease | [Disease:9944973] Kabuki syndrome |
| endCoordinate | 1066 |
| hasModifiedResidue | [FragmentReplacedModification:9949983] Replacement of residues 999 to 1066 by YDPSPISRLPSGAGFSHPDGAPSSSVFATPSAFPGSPKLPSFPVLSSCPTTVRSLPVESHREGSGGLR |
| literatureReference | [LiteratureReference:9949915] Molecular analysis, pathogenic mechanisms, and readthrough therapy on a large cohort of Kabuki syndrome patients |
| name | KMT2D M999Yfs*69 |
| referenceEntity | [ReferenceGeneProduct:95334] UniProt:O14686 KMT2D [Homo sapiens] |
| species | [Species:48887] Homo sapiens |
| stableIdentifier | [StableIdentifier:9949986] R-HSA-9949980.1 |
| startCoordinate | 1 |
| (hasMember) | [CandidateSet:9945024] KMT2D LOF variants (WRAD binding) [nucleoplasm] [Homo sapiens] |
| [Change default viewing format] | |
No pathways have been reviewed or authored by KMT2D M999Yfs*69 [nucleoplasm] (9949980)
