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Items: 3

1.

Mammalian Hbs1L deficiency causes Pelota depletion and is associated with a unique phenotype

(Submitter supplied) Hbs1 has been established as a central component of the cell’s translational quality control pathways in both yeast and prokaryotic models; however, the functional characteristics of its human ortholog (Hbs1L) have not been well-defined. We recently reported a novel human phenotype resulting from a mutation in the critical coding region of the HBS1L gene characterized by facial dysmorphism, severe growth restriction, axial hypotonia, global developmental delay and retinal pigmentary deposits. more...
Organism:
Homo sapiens
Type:
Expression profiling by high throughput sequencing; Other
Platform:
GPL18573
22 Samples
Download data: CSV, TXT
Series
Accession:
GSE123564
ID:
200123564

PubMed Full text in PMC Similar studies Analyze with GEO2RSRA Run Selector

2.

Illumina NextSeq 500 (Homo sapiens)

Organism:
Homo sapiens
12466 Series
340425 Samples
Download data
Platform
Accession:
GPL18573
ID:
100018573

3.

patient rep6 Ribo-seq

Organism:
Homo sapiens
Source name:
Skin fibroblasts
Platform:
GPL18573
Series:
GSE123564
Download data: TXT
Sample
Accession:
GSM3507230
ID:
303507230

SRA Run Selector

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db=gds|term=GSM3507230[Accession]|query=1|qty=2|blobid=MCID_670c2857c7d3ca20d5a30479|ismultiple=true|min_list=5|max_list=20|def_tree=20|def_list=|def_view=|url=/Taxonomy/backend/subset.cgi?|trace_url=/stat?
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