@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 2024/10/23}}}