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Accession: PRJNA639278 ID: 639278

Episignatures stratifying ADNP syndrome show modest correlation with phenotype [RNA-seq] (human)

See Genome Information for Homo sapiens
We conducted an independent study on 24 individuals with ADNP syndrome and replicated the existence of the two mutation-dependent ADNP episignatures. More...
AccessionPRJNA639278; GEO: GSE152421
Data TypeTranscriptome or Gene expression
ScopeMultiisolate
OrganismHomo sapiens[Taxonomy ID: 9606]
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo; Homo sapiens
PublicationsBreen MS et al., "Episignatures Stratifying Helsmoortel-Van Der Aa Syndrome Show Modest Correlation with Phenotype.", Am J Hum Genet, 2020 Sep 3;107(3):555-563
SubmissionRegistration date: 13-Jun-2020
Depts. of Psychiatry, Genetics and Genomic Sciences, Ichan School of Medicine at Mount Sinai
RelevanceMedical
Project Data:
Resource NameNumber
of Links
Sequence data
SRA Experiments36
Publications
PubMed1
PMC1
Other datasets
BioSample36
GEO DataSets1
GEO Data Details
ParameterValue
Data volume, Supplementary Mbytes6
SRA Data Details
ParameterValue
Data volume, Gbases296
Data volume, Tbytes0.11

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