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UnknownMercaptopurine Ingestion Habits, Red Cell Thioguanine Nucleotide Levels, and Relapse Risk in Children With Acute Lymphoblastic Leukemia: A Report From the Children's Oncology Group Study AALL03N1.
Not available
S-EPMC5455766 | biostudies-literature
Genomicsena-DATASET-UCAM-GEL-15-04-2015-15:15:23:555-345 - samples
Whole exome sequencing BAM files for samples from the BRIDGE Consortium with pathogenic or likely pathogenic variants on genes linked to bleeding or platelet disorders.
EGAD00001001333 | EGA
GenomicsSequencing of heritable Bleeding and Platelet Disorders
The BRIDGE-BPD study aims to discover new causal genes for Bleeding and Platelet Disorders (BPD) by high throughput sequencing using cluster analyses based on improved and standardized deep phenotyping of cases. BPD is one of the 13 Rare Disease projects under the NIHR BioResource Rare Diseases BRID...
EGAS00001001172 | EGA
GenomicsNIHR BioResource DAC
Data Access Committee EGAC00001000259
EGAC00001000259 | EGA
TranscriptomicsA novel recurrent mutation in MITF predisposes to familial and sporadic melanoma
We identified a novel germline mutation of the microphthalmia-associated transcription factor (MITF - E318K). This mutation was found to be present in numerous melanoma families, as well as the general population, where its association with melanoma has a significant effect. We determined the effe...
ORGANISM(S): Homo sapiens 
2011-12-01 | E-GEOD-31269 | biostudies-arrayexpress
GenomicsA novel recurrent mutation in MITF predisposes to familial and sporadic melanoma

We conducted whole-genome sequencing of probands from several melanoma families, identifying one individual carrying a novel germline variant (c.G1075A, NM_000248.3; p.E318K, NP_000239.1; rs149617956) in the melanoma lineage-specific oncogene MITF. While the variant cosegregated with melanoma in ...

phs000419.v1.p1 | EGA
UnknownSimvastatin in Critically Ill Patients with Covid-19.
Not available
S-EPMC10755839 | biostudies-literature
GenomicsBP_August_2016_RNA-Seq_hematopoietic_multipotent_progenitor_cell_on_GRCh38 - samples
RNA-Seq data for 3 hematopoietic multipotent progenitor cell sample(s). 9 run(s), 3 experiment(s), 3 analysis(s) on human genome GRCh38. Part of BLUEPRINT release August 2016. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20160816/homo_sapiens/README_rnase...
EGAD00001002363 | EGA
GenomicsBP_January_2015_RNA-Seq_CD34-negative,_CD41-positive,_CD42-positive_megakaryocyte_cell - samples
RNA-Seq data for 5 CD34-negative, CD41-positive, CD42-positive megakaryocyte cell sample(s). 23 run(s), 5 experiment(s), 5 alignment(s). Part of BLUEPRINT release January 2015. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20140811/homo_sapiens/README_rnas...
EGAD00001001165 | EGA
GenomicsBP_August_2015_RNA-Seq_granulocyte_monocyte_progenitor_cell_on_GRCh38 - samples
RNA-Seq data for 3 granulocyte monocyte progenitor cell sample(s). 3 run(s), 3 experiment(s), 3 alignment(s) on human genome GRCh38. Part of BLUEPRINT release August 2015. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20150820/homo_sapiens/README_rnaseq_an...
EGAD00001001501 | EGA
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