SAMN03104815
External Id
dbGaP
INSDC center name
2014-10-11T00:24:32.603Z
INSDC first public
2024-05-07T11:12:40.063Z
INSDC last update
live
INSDC status
Generic
NCBI submission model
Generic.1.0
NCBI submission package
ERS19680741
SRA accession
DNA
analyte type
NIAID Congenital Glycosylation Disorder
biospecimen repository
SP2
http://purl.obolibrary.org/obo/NCBITaxon_1131
biospecimen repository sample id
Blood
http://purl.obolibrary.org/obo/UBERON_0000178
body site
phs000809
gap_accession
1
gap_consent_code
GRU
gap_consent_short_name
1396463
gap_sample_id
1065520
gap_subject_id
No
is tumor
SNP Genotypes (NGS)
molecular data type
Homo sapiens
http://purl.obolibrary.org/obo/NCBITaxon_9606
organism
female
http://purl.obolibrary.org/obo/PATO_0000383
sex
Family/Twin/Trios
study design
Autosomal recessive PGM3 mutations cause a new Congenital Disorder of Glycosylation
study name
No
subject is affected
SP2
http://purl.obolibrary.org/obo/NCBITaxon_1131
submitted sample id
P2
submitted subject id
NIAID Congenital Glycosylation Disorder
submitter handle
Non-tumor DNA sample from Blood of a human female participant in the dbGaP study Autosomal recessive PGM3 mutations cause a new Congenital Disorder of Glycosylation
title