SAMN52662672
External Id
Lanzhou University Second Hospital
INSDC center name
2025-10-13T00:00:00Z
INSDC first public
2025-10-13T23:01:15.947Z
INSDC last update
SRS26844206
INSDC secondary accession
live
INSDC status
Human
NCBI submission model
Human.1.0
NCBI submission package
SRS26844206
SRA accession
17 years
age
Lanzhou University Second Hospital
biomaterial_provider
2023-10-25
collection_date
Whole-exome sequencing of a Waardenburg syndrome type 1 patient carrying a PAX3 frameshift mutation (c.788dup, p.Gln264ThrfsTer5
description
Child
dev_stage
Waardenburg syndrome type 1
disease
Chinese Yugur
ethnicity
China: Gansu
geo_loc_name
Affected
health_state
Proband
isolate
Homo sapiens
http://purl.obolibrary.org/obo/NCBITaxon_9606
organism
Sensorineural hearing loss, pigmentation abnormalities
phenotype
Chinese
population
Asian
race
Genomic DNA
sample_type
female
sex
Blood
tissue
Whole-exome sequencing sample from WS1 proband
title
None
treatment