|
| Status |
Public on Jan 19, 2023 |
| Title |
A Progeroid Syndrome with Severe Osteogenesis Imperfecta segregates with an Intronic TAPT1 homozygous Variant that Creates a knockout allele |
| Organism |
Homo sapiens |
| Experiment type |
Expression profiling by high throughput sequencing
Other
|
| Summary |
This SuperSeries is composed of the SubSeries listed below.
|
| |
|
| Overall design |
Refer to individual Series
|
| |
|
| Citation(s) |
36652330 |
| |
| Submission date |
Feb 21, 2022 |
| Last update date |
Apr 21, 2023 |
| Contact name |
Dr. Andreas Mayer |
| Organization name |
Max-Plack-Institute for molecular genetics
|
| Street address |
Ihnestraße 63-73
|
| City |
Berlin |
| ZIP/Postal code |
14195 |
| Country |
Germany |
| |
|
| Platforms (1) |
| GPL24676 |
Illumina NovaSeq 6000 (Homo sapiens) |
|
| Samples (13)
|
|
| This SuperSeries is composed of the following SubSeries: |
| GSE197118 |
A Progeroid Syndrome with Severe Osteogenesis Imperfecta segregates with an Intronic TAPT1 homozygous Variant that Creates a knockout allele [RNA-seq] |
| GSE197119 |
A Progeroid Syndrome with Severe Osteogenesis Imperfecta segregates with an Intronic TAPT1 homozygous Variant that Creates a knockout allele [NET-seq] |
|
| Relations |
| BioProject |
PRJNA809010 |
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