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

Project Data

Resource name Description
BioSample (1) -
SAMC1857372 A novel variant in the USH2A gene