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A new beta-globin mutation responsible of a beta-thalassemia (HbVar database ID 2928) was observed in 8 unrelated French families. The mutation carriers originated from Nord-Pas-de-Calais, a Northern French region where the chief town is Lille.5 unrelated mutation carriers were genotyped for a set of 12 microsatellites from chromosome 11, around the beta-globin gene. Among the 5 mutation carriers, 4 were genotyped for 97 European Ancestry Informative SNPs (EAIMs). 32 controls from Nord-Pas-de-Calais were genotyped for the microsatellites and SNPs.
Dac
EGAC00001000245
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Cancer Genome Project Exome Sequencing
Dataset
EGAD00001000289
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Epigenome-wide association study of asthma remission in whole blood and nasal epithelium
Dataset
EGAD00010002026
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RNA-seq dataset
Dataset
EGAD50000000347
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Ischemia Reperfusion Responses in Human Lung Transplants at the Single Cell Resolution
Dataset
EGAD50000000704
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Anti-MPO BCR sequences described in 'Anti-myeloperoxidase IgM B cells in anti-neutrophil cytoplasmic antibody-associated vasculitis'
Dataset
EGAD50000001112
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WES of head and neck cancer patients refractory to anti-PD-1 therapy
Dataset
EGAD50000001011
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DNA sequencing of sgRNAs in CRISPR-Cas9 screening and RNA sequencing of SF3B4-overexpressing liver organoids
Dataset
EGAD50000001625
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RNA fastq files and mutation annotation files
Dataset
EGAD50000001768
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BLUEPRINT release August 2016, Bisulfite-Seq for alternatively activated macrophage, on genome GRCh38
Dataset
EGAD00001002305