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SRP133497
Homo sapiens
3 Downloadable Samples
Description
Pheochromocytomas/paragangliomas are the most heritable of all tumors. However, there are still cases that are not explained by mutations in the known genes. We aimed to identify the genetic cause of disease in a patient strongly suspected of having hereditary tumors. We identified a novel de novo mutation in DNMT3A, affecting a highly conserved residue. Among other results from other techniques, a different global expression profile was observed in the patient carrying the mutated DNMT3A compared to controls (parents) by RNA-seq
Publication Title
Gain-of-function mutations in DNMT3A in patients with paraganglioma.
Sample Metadata Fields
No sample metadata fields
View Samples- Vitis vinifera
- 1 Downloadable Sample
- Illumina HiSeq 2000
Description
The goal of this project is to identify the transcripts of Vitis vinifera cv. Cabernet Sauvignon using de novo assembly of NextGen sequences.
Publication Title
No associated publication
Sample Metadata Fields
Age, Specimen part
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