GEO DataSets Links for dbVar (Select 1275992) - GEO DataSets

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Links from dbVar

Items: 2

Select item 2000268601.

ENPP1 deletion and infantile arterial calcification

(Submitter supplied) The goal of this study was to identify new mutations in the ENPP1 gene that produce infantile arterial calcification and fetal demise. A stillborn (proband) was diagnosed with infantile arterial calcification. Mutations in the ENPP1 gene account for ~80% of the cases of infantile arterial calcification through loss of function in both alleles (recessive inheritance).

Organism:: Homo sapiens

Type:: Genome variation profiling by SNP array; SNP genotyping by SNP array

Platform:: GPL6801
1 Sample

Download data: CEL, CNCHP, TXT

Series

Accession:: GSE26860

ID:: 200026860

Select item 1000068012.

[GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array

(Submitter supplied) Affymetrix submissions are typically submitted to GEO using the GEOarchive method described at http://www.ncbi.nlm.nih.gov/projects/geo/info/geo_affy.html June 03, 2009: annotation table updated with netaffx build 28 (ucsc=hg18; ncbi=NCBI36) August 01, 2012: annotation table updated with netaffx build 32 (ucsc=hg19; ncbi=GRCh37) Protocol: see manufacturer's web site The new Affymetrix® Genome-Wide Human SNP Array 6.0 features 1.8 million genetic markers, including more than 906,600 single nucleotide polymorphisms (SNPs) and more than 946,000 probes for the detection of copy number variation. more...