TY - JOUR T1 - The common PKD1 p.(Ile3167Phe) variant is hypomorphic and associated with very early onset, biallelic polycystic kidney disease JO - Human Mutation UR - https://eprints.whiterose.ac.uk/id/eprint/202197 PY - 2023/07/28 AU - Durkie M AU - Watson CM AU - Winship P AU - Hogg A-C AU - Nyanhete R AU - Cooley S AU - Valluru MK AU - Shaw-Smith C AU - Bingham C AU - Gilchrist M AU - Kenny J et al ED - Oetting W DO - DOI: 10.1155/2023/5597005 PB - Hindawi Limited VL - 2023 Y2 - 2024/12/29 ER -