PKD1 c.9324C>A ;(p.A3108=)

Variant ID: 16-2152135-G-T

NM_001009944.2(PKD1):c.9324C>A;(p.A3108=)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Detecting PKD1 variants in polycystic kidney disease patients by single-molecule long-read sequencing.

Human Mutation
BorrĂ s, Daniel M DM; Vossen, Rolf H A M RHAM; Liem, Michael M; Buermans, Henk P J HPJ; Dauwerse, Hans H; van Heusden, Dave D; Gansevoort, Ron T RT; den Dunnen, Johan T JT; Janssen, Bart B; Peters, Dorien J M DJM; Losekoot, Monique M; Anvar, Seyed Yahya SY
Publication Date: 2017-07

Variant appearance in text: rs780284643
PubMed Link: 28378423
Variant Present in the following documents:
  • Main text
  • HUMU-38-870-s001.pdf
  • HUMU-38-870.pdf
View BVdb publication page