PKD1 c.9947G>A ;(p.S3316N)

Variant ID: 16-2149748-C-T

NM_001009944.2(PKD1):c.9947G>A;(p.S3316N)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Novel and de novo PKD1 mutations identified by multiple restriction fragment-single strand conformation polymorphism (MRF-SSCP).

Bmc Medical Genetics
Thongnoppakhun, Wanna W; Limwongse, Chanin C; Vareesangthip, Kriengsak K; Sirinavin, Chintana C; Bunditworapoom, Duangkamon D; Rungroj, Nanyawan N; Yenchitsomanus, Pa-thai PT
Publication Date: 2004-02-03

Variant appearance in text: PKD1: S3316N
PubMed Link: 15018634
Variant Present in the following documents:
  • Main text
  • 1471-2350-5-2.pdf
View BVdb publication page