Exome data reanalysis solved case in undetermined nephropathy with detection of TULP3-truncating variant
Nephrol Dial Transplant
.
2023 Mar 31;38(4):1057-1060.
doi: 10.1093/ndt/gfac319.
Authors
Thomas Robert
1
2
,
Benjamin Savenkoff
3
,
Tristan Legris
1
4
,
Laure Raymond
5
,
Julia Torrents
6
,
Stéphane Burtey
1
3
,
Marine Dancer
4
Affiliations
1
Centre of Nephrology and Renal Transplantation, Hôpital de la Conception, CHU de Marseille, Marseille, France.
2
MMG, Bioinformatics & Genetics, INSERM U1251, Aix-Marseille Université, Marseille, France.
3
Centre of Nephrology and Dialysis and Therapeutic Apheresis, CHR Metz-Thionville, Thionville, France.
4
Aix-Marseille University, INSERM, INRAE, C2VN, Marseille, France.
5
Genetics Department, Laboratoire Eurofins Biomnis, Lyon, France.
6
Department of Renal Pathology, CHU Timone, AP-HM, Marseille, France.
PMID:
36460032
DOI:
10.1093/ndt/gfac319
No abstract available
Publication types
Letter
MeSH terms
Exome* / genetics
Genetic Testing*
Humans
Intracellular Signaling Peptides and Proteins
Substances
TULP3 protein, human
Intracellular Signaling Peptides and Proteins