Accession |
PRJCA005938 |
Title |
A novel variant in the USH2A gene and prenatal diagnosis |
Relevance |
Medical |
Data types |
Phenotype or Genotype
|
Organisms |
Homo sapiens
|
Description |
The results of the present study identified two compound heterozygous USH2A variants in a patient with hearing loss and reported a novel USH2A variant which expands the spectrum of USH2A variants in USH. |
Sample scope |
Multiisolate |
Release date |
2021-07-25 |
Grants |
Agency |
program |
Grant ID |
Grant title |
Sichuan University
|
|
No.2020YFS0095
|
|
|
Submitter |
Cong
Zhou (zhoucongnoi@163.com)
|
Organization |
Sichuan University |
Submission date |
2021-07-25 |