SAMN03104813
External Id
dbGaP
INSDC center name
2014-10-11T00:24:32.360Z
INSDC first public
2024-05-07T11:12:39.500Z
INSDC last update
live
INSDC status
Generic
NCBI submission model
Generic.1.0
NCBI submission package
ERS19680739
SRA accession
DNA
analyte type
NIAID Congenital Glycosylation Disorder
biospecimen repository
SP1
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
1396462
gap_sample_id
1065519
gap_subject_id
No
is tumor
SNP Genotypes (NGS)
molecular data type
Homo sapiens
http://purl.obolibrary.org/obo/NCBITaxon_9606
organism
male
http://purl.obolibrary.org/obo/PATO_0000384
sex
Family/Twin/Trios
study design
Autosomal recessive PGM3 mutations cause a new Congenital Disorder of Glycosylation
study name
No
subject is affected
SP1
submitted sample id
P1
http://www.ebi.ac.uk/efo/EFO_0002948
submitted subject id
NIAID Congenital Glycosylation Disorder
submitter handle
Non-tumor DNA sample from Blood of a human male participant in the dbGaP study Autosomal recessive PGM3 mutations cause a new Congenital Disorder of Glycosylation
title