Accession |
PRJCA003181 |
Title |
A novel likely pathogenic variant in the UMOD gene in a family with autosomal dominant tubulointerstitial kidney disease |
Relevance |
Medical |
Data types |
Exome
|
Organisms |
Homo sapiens
|
Description |
A heterozygous missense variant (c.674C>G; p.T225R) in UMOD was found in in a family with autosomal dominant tubulointerstitial kidney disease |
Sample scope |
Multiisolate |
Release date |
2020-08-05 |
Publication |
PubMed ID |
Article title |
Journal name |
DOI |
Year |
32847529
|
A novel likely pathogenic variant in the UMOD gene in a family with autosomal dominant tubulointerstitial kidney disease: a case report
|
BMC Nephrology
|
10.1186/s12882-020-02022-1
|
2020
|
|
Grants |
Agency |
program |
Grant ID |
Grant title |
Central South University
|
|
ZY2013
|
|
|
Submitter |
dang
xi
qiang (dangxiqiang@csu.edu.cn)
|
Organization |
Central South University |
Submission date |
2020-08-05 |