PKD1 c.12503dup ;(p.S4169Lfs*41)

Variant ID: 16-2140136-G-GC

NM_001009944.2(PKD1):c.12503dup;(p.S4169Lfs*41)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Genetic Complexity of Autosomal Dominant Polycystic Kidney and Liver Diseases.

Journal Of The American Society Of Nephrology : Jasn
Cornec-Le Gall, Emilie E; Torres, Vicente E VE; Harris, Peter C PC
Publication Date: 2018-01

Variant appearance in text: PKD1: 12503dup; Ser4169Leufs*41
PubMed Link: 29038287
Variant Present in the following documents:
  • Main text
View BVdb publication page



Comprehensive PKD1 and PKD2 Mutation Analysis in Prenatal Autosomal Dominant Polycystic Kidney Disease.

Journal Of The American Society Of Nephrology : Jasn
Audrézet, Marie-Pierre MP; Corbiere, Christine C; Lebbah, Said S; Morinière, Vincent V; Broux, Françoise F; Louillet, Ferielle F; Fischbach, Michel M; Zaloszyc, Ariane A; Cloarec, Sylvie S; Merieau, Elodie E; Baudouin, Véronique V; Deschênes, Georges G; Roussey, Gwenaelle G; Maestri, Sandrine S; Visconti, Chiara C; Boyer, Olivia O; Abel, Carine C; Lahoche, Annie A; Randrianaivo, Hanitra H; Bessenay, Lucie L; Mekahli, Djalila D; Ouertani, Ines I; Decramer, Stéphane S; Ryckenwaert, Amélie A; Cornec-Le Gall, Emilie E; Salomon, Rémi R; Ferec, Claude C; Heidet, Laurence L
Publication Date: 2016-03

Variant appearance in text: PKD1: 12503dup; Ser4169Leufs*41
PubMed Link: 26139440
Variant Present in the following documents:
  • Main text
View BVdb publication page