PC c.222_223insGAGACC ;(p.Q74_M75insET)

Variant ID: 11-66639256-T-TGGTCTC

NM_001040716.1(PC):c.222_223insGAGACC;(p.Q74_M75insET)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Papillorenal syndrome-causing missense mutations in PAX2/Pax2 result in hypomorphic alleles in mouse and human.

Plos Genetics
Alur, Ramakrishna P RP; Vijayasarathy, Camasamudram C; Brown, Jacob D JD; Mehtani, Mohit M; Onojafe, Ighovie F IF; Sergeev, Yuri V YV; Boobalan, Elangovan E; Jones, Marypat M; Tang, Ke K; Liu, Haiquan H; Xia, Chun-Hong CH; Gong, Xiaohua X; Brooks, Brian P BP
Publication Date: 2010-03-05

Variant appearance in text: PC: 222insGAGACC
PubMed Link: 20221250
Variant Present in the following documents:
  • Main text
  • pgen.1000870.pdf
View BVdb publication page