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Items: 3

1.

Tetra-Amelia with lung aplasia phenotype

(Submitter supplied) Clinical findings of this case has been reported previously by Sergio de Sousa (American Journal of Medical Genetics Part A 146A:2799–2803 (2008)). RSPO2 gene has been identified by our group (İstanbul, Turkey, 2014) as responsible gene for Tetra-Amelia with lung aplasia phenotype. To find causative pathogenic variations, sanger sequencing of fetal DNA was performed and did not reveal any variations. more...
Organism:
Homo sapiens
Type:
Genome variation profiling by SNP array
Platform:
GPL13829
1 Sample
Download data: IDAT, TXT
Series
Accession:
GSE111781
ID:
200111781
2.

Illumina HumanCytoSNP-12 v2.1 BeadChip

(Submitter supplied) See manufacturer's website
Organism:
Homo sapiens
56 Series
3148 Samples
Download data
Platform
Accession:
GPL13829
ID:
100013829
3.

AF_cultured_DNA

Organism:
Homo sapiens
Source name:
Amniotic fluid culture
Platform:
GPL13829
Series:
GSE111781
Download data: IDAT
Sample
Accession:
GSM3039647
ID:
303039647
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Supplemental Content

db=gds|term=GSE111781[Accession]|query=1|qty=2|blobid=MCID_675d10de0600166e51495d1f|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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