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Items: 3

1.

Identification of Potentially Pathogenic Variants in the Posterior Polymorphous Corneal Dystrophy 1 Locus

(Submitter supplied) Purpose: To identify the genetic basis of posterior polymorphous corneal dystrophy 1 (PPCD1). Methods: Next-generation sequencing was performed on DNA samples from 4 affected and 4 unaffected members of a previously reported family with PPCD1 linked to chromosome 20 between D20S182 and D20S195. Custom capture probes were utilized for targeted region capture of the linked interval. Single nucleotide variants (SNVs) and insertions/deletions (indels) were identified using two bioinformatics pipelines and two annotation databases. more...
Organism:
Homo sapiens
Type:
Genome variation profiling by genome tiling array
Platform:
GPL20879
8 Samples
Download data: TXT
Series
Accession:
GSE72617
ID:
200072617
2.

Agilent-073748 PPCD1 CNV 17.3-34.0 (Probe Name version)

(Submitter supplied) Array design is based on genome build hg19/GRCh37. G4126A Protocol: See manufacturer's web site (http://www.agilent.com/).
Organism:
Homo sapiens
1 Series
1 Related Platform
8 Samples
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Platform
Accession:
GPL20879
ID:
100020879
3.

PPCD Affected Individual 1

Organism:
Homo sapiens
Source name:
blood leukocytes, affected (channel 1) Human reference DNA (Agilent 5190-4371) (channel 2)
Platform:
GPL20879
Series:
GSE72617
Download data: TXT
Sample
Accession:
GSM1866510
ID:
301866510
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db=gds|term=GSM1866510[Accession]|query=1|qty=2|blobid=MCID_61433176df204a24cc27f201|ismultiple=true|min_list=5|max_list=20|def_tree=20|def_list=|def_view=|url=/Taxonomy/backend/subset.cgi?|trace_url=/stat?
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