Accession SAMC1960408
Accession in Other Database GSA-Human: HRS309108
Sample name Sn2
Title Sanger sequencing result of the patient
Sample type Human sample
Organism Homo sapiens
Description Sanger sequencing result of the patient
Attributes
Isolate not collected
Age
Biomaterial provider Chinese People's Liberation Army (PLA) General Hospital
Sex female
Tissue blood
Disease
Cell line
Cell subtype
Cell type
Culture collection
Development stage
Disease stage
Ethnicity
Health State
Karyotype
Phenotype
Population
Race
Type
Treatment
Collection date 2016-07-10
Custom attributes
Release date 2021-11-17
BioProject Accession PRJCA007225
Submitter Huafang  Gao  (gaohuafang@nrifp.org.cn)
Organization National Research Institute for Family Planning
Submission date 2023-06-18

Sample Data

Resource name Description
GSA-Human (1) -
HRA001546  (Open Access) We used targeted-NGS for genetic diagnosis of 18 NSHL probands. We identified 18 novel variants in 12 deafness genes, which enlarged the variant spectrum of deafness genes in the Han Chinese population. These findings help inform the genetic diagnosis of deafness and add to the theoretical basis for the prevention of deafness.
Related samples
Samples (0)