Publications:

Exome-First Strategy in Adult Patients With CKD: A Cohort Study.

Kidney International Reports

Doreille, Alice A; Lombardi, Yannis Y; Dancer, Marine M; Lamri, Radoslava R; Testard, Quentin Q; Vanhoye, Xavier X; Lebre, Anne-Sophie AS; Garcia, Hugo H; Rafat, Cédric C; Ouali, Nacera N; Luque, Yosu Y; Izzedine, Hassan H; Esteve, Emmanuel E; Cez, Alexandre A; Petit-Hoang, Camille C; François, Hélène H; Marchal, Armance A; Letavernier, Emmanuel E; Frémeaux-Bacchi, Véronique V; Boffa, Jean-Jacques JJ; Rondeau, Eric E; Raymond, Laure L; Mesnard, Laurent L

Publication Date: 2023-03

Variant appearance in text: PKD1: 6130A>G; Asn2044Asp

PubMed Link: 36938085

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

Novel mutations of PKD genes in the Czech population with autosomal dominant polycystic kidney disease.

Bmc Medical Genetics

Obeidova, Lena L; Elisakova, Veronika V; Stekrova, Jitka J; Reiterova, Jana J; Merta, Miroslav M; Tesar, Vladimir V; Losan, Frantisek F; Kohoutova, Milada M

Publication Date: 2014-04-03

Variant appearance in text: PKD1: 6130A>G; Asn2044Asp

PubMed Link: 24694054

Variant Present in the following documents:

• Main text
• 1471-2350-15-41.pdf

View BVdb publication page