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Series GSE54335 Query DataSets for GSE54335
Status Public on Jan 22, 2017
Title A new syndrome of overgrowth, macrocephaly, hypoglycemia, enlarged ventricles, mild, and moderate intellectual disability and recurrent inflammatory disease is due to mutations in RNF125
Organism Homo sapiens
Experiment type Methylation profiling by array
Summary Methylation analysis of individuals with RNF125 mutations
Overall design Methylation analysis utilizing the Illumina Infinium HumanMethylation450 BeadChip arrays
Contributor(s) Lapunzina P, Monk D
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Submission date Jan 23, 2014
Last update date Mar 22, 2019
Contact name Manel Esteller
Organization name IDIBELL
Department PEBC
Lab Cancer Epigenetics
Street address Hospital Duran i Reynals Av. Gran Via s/n km, 2.7
City L'Hospitalet de Llobregat
State/province Barcelona
ZIP/Postal code 08908
Country Spain
Platforms (1)
GPL13534 Illumina HumanMethylation450 BeadChip (HumanMethylation450_15017482)
Samples (4)
GSM1313404 RNF125 mutated individual OGS009
GSM1313405 RNF125 mutated individual OGS837
GSM1313406 RNF125 mutated individual OGS836
BioProject PRJNA236218

Download family Format
SOFT formatted family file(s) SOFTHelp
MINiML formatted family file(s) MINiMLHelp
Series Matrix File(s) TXTHelp

Supplementary file Size Download File type/resource
GSE54335_RAW.tar 183.1 Mb (http)(custom) TAR
GSE54335_beta_and_signal_intensities.txt.gz 24.4 Mb (ftp)(http) TXT
Processed data included within Sample table
Processed data are available on Series record

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