PKD1 c.8350C>T ;(p.Q2784*)

Variant ID: 16-2153708-G-A

NM_001009944.2(PKD1):c.8350C>T;(p.Q2784*)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Targeted Next-Generation Sequencing for Clinical Diagnosis of 561 Mendelian Diseases.

Plos One
Liu, Yanqiu Y; Wei, Xiaoming X; Kong, Xiangdong X; Guo, Xueqin X; Sun, Yan Y; Man, Jianfen J; Du, Lique L; Zhu, Hui H; Qu, Zelan Z; Tian, Ping P; Mao, Bing B; Yang, Yun Y
Publication Date: 2015

Variant appearance in text: PKD1: 8350C>T; Q2784*
PubMed Link: 26274329
Variant Present in the following documents:
  • Main text
  • pone.0133636.pdf
View BVdb publication page