Kabuki syndrome
rare disease
nimetatud ... järgi
leiutaja või avastaja
Norio Niikawa
avastamise aeg
1981
meditsiiniline eriala
medical genetics
external data available at URL
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Kabuki syndrome
Viited
- ↑ 1,0 1,1 1,2 1,3 1,4 Monarch Disease Ontology release 2018-06-29, 7. august 2018, MONDO_0016512
- ↑ 2,0 2,1 2,2 2,3 2,4 2,5 Disease Ontology, 28. august 2019, DOID:0060473
- ↑ Freebase Data Dumps, 28. oktoober 2013
- ↑ OpenAlex, 26. jaanuar 2022, https://docs.openalex.org/download-snapshot/snapshot-data-format
- ↑ 5,0 5,1 5,2 Disease Ontology, 30. november 2020, DOID:0060473
- ↑ http://www.nanbyou.or.jp/entry/4663, 6. detsember 2018
- ↑ 7,0 7,1 https://ddrare.nibiohn.go.jp/, 17. mai 2019
- ↑ Deletion of KDM6A, a histone demethylase interacting with MLL2, in three patients with Kabuki syndrome
- ↑ Open Targets Platform, 24. august 2023, https://platform.opentargets.org/evidence/ENSG00000147050/MONDO_0016512, inferred from an Open Targets association score over 0.7
- ↑ Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome
- ↑ Open Targets Platform, 24. august 2023, https://platform.opentargets.org/evidence/ENSG00000167548/MONDO_0016512, inferred from an Open Targets association score over 0.7
- ↑ Identifiers.org, https://registry.identifiers.org/registry/doid