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Accession: PRJNA170381 ID: 170381

Homo sapiens (human)

SNP array for CNV calling AUTS2 project [Affymetrix]

See Genome Information for Homo sapiens
Phenotypic and genotypic description of AUTS2 deletion patients found by Array analysis in an international cohort of intellectual disability (ID) and multiple congenital malformations (MCA). More...
AccessionPRJNA170381; GEO: GSE36950
Data TypeVariation
ScopeMultiisolate
OrganismHomo sapiens[Taxonomy ID: 9606]
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo; Homo sapiens
PublicationsBeunders G et al., "Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus.", Am J Hum Genet, 2013 Feb 7;92(2):210-20
SubmissionRegistration date: 30-Mar-2012
Cytogenetics, Clinical Genetics, VU medical center
RelevanceMedical
Project Data:
Resource NameNumber
of Links
Publications
PubMed1
PMC1
Other datasets
GEO DataSets1
GEO Data Details
ParameterValue
Data volume, Spots3751546
Data volume, Processed Mbytes79
Data volume, Supplementary Mbytes59

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