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