Episignature Mapping of
Clark–Baraitser syndrome
DNA methylation
TRIP12
episignature
intellectual disability
Journal
International journal of molecular sciences
ISSN: 1422-0067
Titre abrégé: Int J Mol Sci
Pays: Switzerland
ID NLM: 101092791
Informations de publication
Date de publication:
08 Nov 2022
08 Nov 2022
Historique:
received:
17
10
2022
revised:
04
11
2022
accepted:
05
11
2022
entrez:
26
11
2022
pubmed:
27
11
2022
medline:
30
11
2022
Statut:
epublish
Résumé
Clark-Baraitser syndrome is a rare autosomal dominant intellectual disability syndrome caused by pathogenic variants in the
Identifiants
pubmed: 36430143
pii: ijms232213664
doi: 10.3390/ijms232213664
pmc: PMC9690904
pii:
doi:
Substances chimiques
Ubiquitin-Protein Ligases
EC 2.3.2.27
Ubiquitin
0
TRIP12 protein, human
EC 2.3.2.26
Carrier Proteins
0
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : London Health Sciences Molecular Diagnostics Development Fund
ID : NA
Organisme : Genome Canada Genomic Applications Partnership Program
ID : NA
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