
NCBI . NLM . NIH . GOV {
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Title[redir]:
Variants in PUS7 Cause Intellectual Disability with Speech Delay, Microcephaly, Short Stature, and Aggressive Behavior - PMC
Description:
We describe six persons from three families with three homozygous protein truncating variants in PUS7: c.89_90del (p.Thr30Lysfs∗20), c.1348C>T (p.Arg450∗), and a deletion of the penultimate exon 15. All these individuals have intellectual disability ...
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Keywords {🔍}
pus, doi, rna, pubmed, google, scholar, family, pseudouridylation, pmc, article, affected, figure, free, mrna, variant, individuals, pseudouridine, position, delay, analysis, variants, human, trnas, individual, control, intellectual, disability, aggressive, behavior, trna, supplemental, data, synthase, years, drosophila, sites, microcephaly, activity, mutant, deletion, performed, flies, speech, families, protein, growth, small, targets, yeast, normal,
Topics {✒️}
x-linked single-nucleotide variants institutional review board pre-defined high-confidence catalog rigidified sugar-phosphate backbone abundant post-transcriptional modification pmc beta search trna-derived small fragments transcriptome-wide mapping pmc copyright notice nonsense-mediated mrna decay guide rna-induced deletion rna-independent pseudouridine synthases pus7-mediated ψ site license information pmcid rna-independent pseudouridine synthase performed ψ-seq analysis premature stop codon disease-related variants lead israel science foundation supplementary materials included mammalian pseudouridylation guide mutant adult males branch-site architecture supplemental data mmc2 trud catalytic domain obtained similar results high expression levels data availability statements primer extension analysis enriched rna derived yeast u2 snrna applied ψ-seq united states government pedro rebelo-guiomar 7 jean-yves roignant 4 15 improved base-pairing ugψag core motif written informed consent magnetic resonance imaging extensive mongolian spots elav-gal4 driver action medical research higher education commission medical research council branchpoint recognition region ortholog prediction rna-independent manner abramson family center berlin family foundation recessively inherited pus1
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Analytics and Tracking {📊}
- Google Analytics
- Google Analytics 4
- Google Tag Manager
Libraries {📚}
- Backbone.js
- jQuery
- jQuery module (jquery-3.6.0)
- Zoom.js
Emails and Hosting {✉️}
Mail Servers:
- nihcesxway.hub.nih.gov
- nihcesxway2.hub.nih.gov
- nihcesxway3.hub.nih.gov
- nihcesxway4.hub.nih.gov
- nihcesxway5.hub.nih.gov
Name Servers:
- dns1-ncbi.ncbi.nlm.nih.gov
- dns2-ncbi.ncbi.nlm.nih.gov
- lhcns1.nlm.nih.gov
- lhcns2.nlm.nih.gov
CDN Services {📦}
- Ncbi