The Opdc missense mutation of Pax2 has a milder than loss-of-function phenotype.
Cross
Sally H
SH
MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, Edinburgh, UK. sally.cross@hgu.mrc.ac.uk
McKie
Lisa
L
West
Katrine
K
Coghill
Emma L
EL
Favor
Jack
J
Bhattacharya
Shoumo
S
Brown
Steve D M
SD
Jackson
Ian J
IJ