@article{article, title = {{The common PKD1 p.(Ile3167Phe) variant is hypomorphic and associated with very early onset, biallelic polycystic kidney disease}}, publisher = {{Hindawi Limited}}, url = {{https://eprints.whiterose.ac.uk/id/eprint/202197 }}, year = {{2023}}, month = {{7}}, author = {{Durkie M and Watson CM and Winship P and Hogg A-C and Nyanhete R and Cooley S and Valluru MK and Shaw-Smith C and Bingham C and Gilchrist M and Kenny J et al}}, doi = {{10.1155/2023/5597005}}, volume = {{2023}}, journal = {{Human Mutation}}, note = {{Accessed on 2025/07/13}}}