PKD1 c.11972del ;(p.A3991Gfs*48)

Variant ID: 16-2140916-CG-C

NM_001009944.2(PKD1):c.11972del;(p.A3991Gfs*48)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


High Resolution Melt analysis for mutation screening in PKD1 and PKD2.

Bmc Nephrology
Bataille, Stanislas S; Berland, Yvon Y; Fontes, Michel M; Burtey, Stéphane S
Publication Date: 2011-10-18

Variant appearance in text: PKD1: 11972delC; Ala3991fs
PubMed Link: 22008521
Variant Present in the following documents:
  • Main text
  • 1471-2369-12-57.pdf
View BVdb publication page