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Neurofibromatosis type 1 (NF1) is the most common autosomal dominant disorder, affecting 1 in 3,500 individuals worldwide and predisposing to cancer. Germline mutations in the NF1 gene, encoding the p21Ras GTPase-activating protein (GAP) neurofibromin, are the underlying cause for NF1. Somatic inact...
ORGANISM(S): Mus musculus (Mouse) 
2023-05-18 | PXD019005 | Pride
These are only the whole exome sequences
This is the complete dataset (exome and genome) for the EGAS00001000974 study.
Data Access Committee EGAC00001000253
Neurofibromatosis 1 is a hereditary syndrome characterized by the development of numerous benign neurofibromas, a small subset of which progress to malignant peripheral nerve sheath tumors (MPNSTs). To better understand the genetic basis for MPNSTs, we performed whole genome sequencing on four MPNST...
Diabetic kidney disease (DKD) is the most common microvascular complication of type 2 diabetes mellitus (2-DM). Currently, urine and kidney biopsy specimens are the major clinical resources for DKD diagnosis. The diagnostic values of blood in monitoring the onset and progression of DKD have not been...
ORGANISM(S): Homo Sapiens (ncbitaxon:9606) 
2021-05-22 | MSV000087487 | MassIVE
This data was generated by ENCODE. If you have questions about the data, contact the submitting laboratory directly (Barbara Wold mailto:woldb@caltech.edu, Georgi K. Marinov mailto:georgi@caltech.edu, Diane Trout mailto:diane@caltech.edu). If you have questions about the Genome Browser track associa...
ORGANISM(S): Mus musculus 
This data was produced by the Wold lab at Caltech as part of the ENCODE Project. RNA-Seq is a method for mapping and quantifying the transcriptome of any organism that has a genomic DNA sequence assembly. RNA-Seq is performed by reverse-transcribing an RNA sample into cDNA, followed by high throughp...
ORGANISM(S): Homo sapiens 
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