Exome data reanalysis solved case in undetermined nephropathy with detection of TULP3-truncating variant

Thomas Robert^{1

2}, Benjamin Savenkoff³, Tristan Legris^{1

4}, Laure Raymond⁵, Julia Torrents⁶, Stéphane Burtey^{1

3}, Marine Dancer⁴

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.

Free article

Thomas Robert et al. Nephrol Dial Transplant. 2023.

Free article

. 2023 Mar 31;38(4):1057-1060.

doi: 10.1093/ndt/gfac319.

Thomas Robert^{1

2}, Benjamin Savenkoff³, Tristan Legris^{1

4}, Laure Raymond⁵, Julia Torrents⁶, Stéphane Burtey^{1

3}, Marine Dancer⁴

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.

No abstract available

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