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ABSTRACT: ARCI cases in south of Tunisia: towards genotype-phenotype correlation

PROVIDER: PRJNA765516 | ENA |

REPOSITORIES: ENA

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Dataset's files

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			Action	DRS
	SRR16018647_1.fastq.gz	Fastqsanger.gz
	SRR16018647_2.fastq.gz	Fastqsanger.gz
	SRR16018648_1.fastq.gz	Fastqsanger.gz
	SRR16018648_2.fastq.gz	Fastqsanger.gz
	SRR16018649_1.fastq.gz	Fastqsanger.gz

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Project description:To allow accute charaterization of NF1 locus constitutional microdeletion in 70 NF1 patients, a custom array CGH was developped. Goal was to obtain genomic rearrangements fine characterization in order to perform genotype-phenotype correlation in NF1 microdeleted patients. To serve as a reference group in our genotype-phenotype correlation study in NF1 microdeletion patients, non-deleted NF1 patients (i.e. patients with an intragenic NF1 mutation) were also selected from our database. A total of 389 NF1 patients were included in the reference group of non-deleted patients. Multiple logistic regression was performed to test the association of each clinical feature individually with the type of constitutional NF1 mutation (intragenic mutation vs. microdeletion). The phenotypic traits of the 389 reference patients are available in the "GSE19730_control_patient_characteristics.txt" supplementary file on the Series record.

2010-05-26 | GSE19730 | GEO

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