Homo sapiens
gap_accession
phs000288
submitter handle
NHGRI_Ciliopathies_Exome
biospecimen repository
NHGRI_Ciliopathies_Exome
study name
Ciliopathies Exome Sequencing Initiative
study design
Case-Control
biospecimen repository sample id
NDD-1634-3-2
submitted sample id
NDD-1634-3-2
submitted subject id
NDD-1634-3-2
gap_sample_id
677626
gap_subject_id
550397
sex
male
study disease
Congenital Abnormalities
body site
whole blood
histological type
whole blood
analyte type
DNA
is tumor
No
subject is affected
Yes
molecular data type
SNP Genotypes (NGS)
molecular data type
Whole Exome (NGS)
gap_consent_code
1
gap_consent_short_name
GR